Nonsense mutation causing steroid 21-hydroxylase deficiency
Open accessAbstract
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon. This is predicted to result in a completely nonfunctional enzyme due to premature termination of translation. In addition, when the cloned mutant gene was transfected into mouse Y1 adrenal cells, the resulting mRNA levels were decreased compared with transfected normal CYP21B genes. This mutation was carried by 3 of 20 unrelated patients with 21-hydroxylase deficiency alleles as determined by hybridization with a specific oligonucleotide probe. This mutation is also seen in the normal CYP21A pseudogene, so that its presence in the abnormal CYP21B gene may be the result of a gene conversion event.
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Occasionally a breakpoint occurs in the TNX genes, leading to complete deletion of C4B and CYP21A2, and a TNXB/TNXA chimeric gene.
“Occasionally a breakpoint occurs in the TNX genes, leading to complete deletion of C4B and CYP21A2, and a TNXB/TNXA chimeric gene (149,150,189).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [150]
The Methods and Results report heterozygous deletion of CYP21B (now CYP21A2) in patients with 21-hydroxylase deficiency. Our copy does not describe a TNX breakpoint, complete deletion of C4B alongside CYP21A2, or a TNXB/TNXA chimeric gene; searches for those terms found no supporting passage. No page numbers were available in the indexed passages. (LLM, conf=0.82)
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Cites
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572 · see citing works
Detection of specific sequences among DNA fragments separated by gel electrophoresis
Southern, E. M. (1975) · Journal of Molecular Biology · doi:10.1016/s0022-2836(75)80083-0 · Cited by 32,245 · see citing works
Isolation of biologically active ribonucleic acid from sources enriched in ribonuclease
Chirgwin, J. M., Przybyla, A., MacDonald, R. J., & Rutter, W. J. (1979) · Biochemistry · doi:10.1021/bi00591a005 · Cited by 21,725 · see citing works
[2] New M13 vectors for cloning
Messing, J. W. (1983) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(83)01005-8 · Cited by 5,374 · see citing works
Screening λgt Recombinant Clones by Hybridization to Single Plaques in Situ
Benton, W. D., & Davis, R. W. (1977) · Science · doi:10.1126/science.322279 · Cited by 4,660 · see citing works
Buffer gradient gels and 35S label as an aid to rapid DNA sequence determination.
Biggin, M. D., Gibson, T. J., & Hong, G. F. (1983) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.80.13.3963 · Cited by 2,416 · see citing works
Davis, R. W., Botstein, D., & Roth, J. R. (1980) · Cold Spring Harbor Laboratory eBooks · Cited by 2,232 · see citing works
Lambda replacement vectors carrying polylinker sequences
Frischauf, A., Lehrach, H. R., Poustka, A., & Murray, N. E. (1983) · Journal of Molecular Biology · doi:10.1016/s0022-2836(83)80190-9 · Cited by 1,685 · see citing works
Congenital Adrenal Hyperplasia
Speiser, P., & White, P. C. (1987) · New England Journal of Medicine · doi:10.1056/nejm198711263172211 · Cited by 1,409 · see citing works
Self-citationA reliable method for the recovery of DNA fragments from agarose and acrylamide gels
Dretzen, G., Gross-Bellard, M., Sassone‐Corsi, P., & Chambon, P. (1981) · Analytical Biochemistry · doi:10.1016/0003-2697(81)90296-7 · Cited by 873 · see citing works
Wood, W. I., Gitschier, J. M., Lasky, L. A., & Lawn, R. M. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.6.1585 · Cited by 790 · see citing works
[25] In vitro RNA synthesis with SP6 RNA polymerase
Krieg, P. A., & Melton, D. A. (1987) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(87)55027-3 · Cited by 710 · see citing works
A highly polymorphic locus in human DNA.
Wyman, A. R., & White, R. L. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.11.6754 · Cited by 708 · see citing works
Structure of human steroid 21-hydroxylase genes.
White, P. C., New, M. I., & Dupont, B. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.14.5111 · Cited by 569 · see citing works
Self-citationHigashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., & Fujii-Kuriyama, Y. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.9.2841 · Cited by 555 · see citing works
[19] In Vitro packaging of λ and cosmid DNA
Höhn, B. (1979) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/0076-6879(79)68021-7 · Cited by 532 · see citing works
Detection of specific sequences among DNA fragments separated by gel electrophoresis. 1975.
Southern, E. M. (1992) · PubMed · Cited by 526 · see citing works
White, P. C., Grossberger, D., Onufer, B. J., Chaplin, D. D., New, M. I., Dupont, B., & Strominger, J. L. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.4.1089 · Cited by 490 · see citing works
Self-citationCarroll, M. C., Campbell, R. D., & Porter, R. R. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.2.521 · Cited by 370 · see citing works
beta 0 thalassemia, a nonsense mutation in man.
Chang, J. C., & Kan, Y. (1979) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.76.6.2886 · Cited by 294 · see citing works
White, P. C., New, M. I., & Dupont, B. (1984) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.81.23.7505 · Cited by 292 · see citing works
Self-citationα1-Antitrypsin deficiency detection by direct analysis of the mutation in the gene
Kidd, V. J., Wallace, R. B., Itakura, K., & Woo, S. L. C. (1983) · Nature · doi:10.1038/304230a0 · Cited by 274 · see citing works
Mutation in the CYP21B gene (Ile-172-Asn) causes steroid 21-hydroxylase deficiency
Amor, M., Parker, K. L., Globerman, H., New, M. I., & White, P. C. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.5.1600 · Cited by 251 · see citing works
Self-citationTight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria
DiLella, A. G., Marvit, J., Lidsky, A. S., Güttler, F., & Woo, S. L. C. (1986) · Nature · doi:10.1038/322799a0 · Cited by 247 · see citing works
Speiser, P. W., New, M. I., & White, P. C. (1988) · New England Journal of Medicine · doi:10.1056/nejm198807073190104 · Cited by 205 · see citing works
Self-citationRodrigues, N. R., Dunham, I., Yu, C. Y., Carroll, M. C., Porter, R. R., & Campbell, R. D. (1987) · The EMBO Journal · doi:10.1002/j.1460-2075.1987.tb02414.x · Cited by 182 · see citing works
Two steroid 21-hydroxylase genes are located in the murine S region
White, P. C., Chaplin, D., Weis, J. H., Dupont, B., New, M. I., & Seidman, J. G. (1984) · Nature · doi:10.1038/312465a0 · Cited by 133 · see citing works
Self-citationFrequent deletion and duplication of the steroid 21-hydroxylase genes.
WERKMEISTER, J. W., New, M. I., Dupont, B., & White, P. C. (1986) · PubMed · Cited by 129 · see citing works
Self-citationCongenital Adrenal Hyperplasia
White, P. C., New, M. I., & Dupont, B. (1987) · New England Journal of Medicine · doi:10.1056/nejm198706183162506 · Cited by 122 · see citing works
Self-citationNucleotide sequence analysis of murine 21-hydroxylase genes: mutations affecting gene expression
Chaplin, D. D., Galbraith, L. J., Seidman, J. G., White, P. C., & Parker, K. L. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.24.9601 · Cited by 98 · see citing works
Self-citationParker, K. L., Chaplin, D. D., Wong, M., Seidman, J. G., Smith, J. A., & Schimmer, B. P. (1985) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.82.23.7860 · Cited by 76 · see citing works
Self-citationYoshioka, H., Morohashi, K.-I., Sogawa, K., Yamane, M., Kominami, S. A. J., Takemori, S., Okada, Y., Omura, T., & Fujii-Kuriyama, Y. (1986) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)35630-2 · Cited by 71 · see citing works
Evans, M. I., Chrousos, G. P., Mann, D., Larsen, J. W., Green, I., McCluskey, J., Loriaux, D. L., Fletcher, J. C., Koons, G., & OVERPECK, J. G. (1985) · PubMed · Cited by 69 · see citing works
Pitfalls of Prenatal Diagnosis of 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia*
Pang, S., Pollack, M. S., Loo, M., Green, O. C., Nussbaum, R. L., CLAYTON, G., Dupont, B., & New, M. I. (1985) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem-61-1-89 · Cited by 67 · see citing works
Self-citationMornet, É., Bou�, J., Raux-Demay, M. C., Couillin, P., Oury, J., Dumez, Y., Dausset, J. B., Cohen, D., & Bou�, A. (1986) · Human Genetics · doi:10.1007/bf00279101 · Cited by 64 · see citing works
Deletion of the steroid 21-hydroxylase and complement C4 genes in congenital adrenal hyperplasia.
Rumsby, G., Carroll, M. C., Porter, R. R., Grant, D., & Hjelm, M. (1986) · Journal of Medical Genetics · doi:10.1136/jmg.23.3.204 · Cited by 63 · see citing works
Gene conversion in a cytochrome P-450 gene family.
Atchison, M. L., & Adesnik, M. (1986) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.83.8.2300 · Cited by 56 · see citing works
IS SALT‐WASTING IN CONGENITAL ADRENAL HYPERPLASIA DUE TO THE SAME GENE AS THE FASCICULATA DEFECT?
STONER, E., DIMARTINO‐NARDI, J., KUHNLE, U., LEVINE, L. S., OBERFIELD, S. E., & NEW, M. I. (1986) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1986.tb03249.x · Cited by 54 · see citing works
Self-citationCloning and Characterization of the Bovine Gene for Steroid 21-Hydroxylase (P-450 c21 )
Chung, B., Matteson, K. J., & Miller, W. L. (1985) · DNA · doi:10.1089/dna.1985.4.211 · Cited by 49 · see citing works
Frequent Deletion and Duplication of the Steroid 21-Hydroxylase Genes
WERKMEISTER, J. W., New, M. I., Dupont, B., & White, P. C. (1987) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-198709000-00015 · Cited by 34 · see citing works
Self-citationCongenital Adrenal Hyperplasia
(1987) · The Lancet · doi:10.1016/s0140-6736(87)92446-9 · Cited by 13 · see citing works
Speiser, P., New, M. I., & White, P. C. (1988) · Obstetrical & Gynecological Survey · doi:10.1097/00006254-198811000-00017 · Cited by 4 · see citing works
Self-citation
Flagged first, then by citations
1 of the 44 references couldn’t be matched to a known paper.
Research works printed but not linked: 1
- Chang, J. C., and Y. W. Kan. 1979. # thalassemia, a nonsense mutation in man. Proc. Natl. Acad. Sci. USA. 76:2886-2889.
Cited by
Sorted by citations
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency*
White, P. C., & Speiser, P. W. (2000) · Endocrine Reviews · doi:10.1210/edrv.21.3.0398 · Cited by 1,432 · see citing works
Self-citationSpeiser, P. W., Dupont, J., Zhu, D., Serrat, J., Buegeleisen, M., Tusie-Luna, M. T., Lesser, M., New, M. I., & White, P. C. (1992) · Journal of Clinical Investigation · doi:10.1172/jci115897 · Cited by 572 · see citing works
Self-citationCongenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
Self-citationWedell, A. (1994) · Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.78.5.1145 · Cited by 370 · see citing works
Nonclassical 21-Hydroxylase Deficiency
New, M. I. (2006) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-1645 · Cited by 315 · see citing works
Self-citationTusie-Luna, M. T., Traktman, P., & White, P. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)45304-x · Cited by 254 · see citing works
Self-citationSteroid 11β- hydroxylase deficiency congenital adrenal hyperplasia
Nimkarn, S., & New, M. I. (2008) · Trends in Endocrinology and Metabolism · doi:10.1016/j.tem.2008.01.002 · Cited by 239 · see citing works
Self-citationShoshani, T., Augarten, A., Gazit, E., Bashan, N., Yahav, Y., Rivlin, Y., Tal, A., Seret, H., Yaar, L., & Kerem, E. (1992) · Europe PMC (PubMed Central) · Cited by 200 · see citing works
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess
New, M. I., & Wilson, R. C. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.22.12790 · Cited by 164 · see citing works
Self-citationPang, S., Clark, A. C., Neto, E. C., Giugliani, R., Dean, H., Winter, J., Dhondt, J., Farriaux, J. P., Graters, A., CACCIARI, E., et al. (1993) · Screening · doi:10.1016/0925-6164(93)90024-d · Cited by 160 · see citing works
Clinical and Molecular Genetics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
Morel, Y., & Miller, W. L. (1991) · Advances in Human Genetics · doi:10.1007/978-1-4684-5958-6_1 · Cited by 158 · see citing works
Wedell, A., Ritzén, E. M., Haglund-Stengler, B., & Luthman, H. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.15.7232 · Cited by 150 · see citing works
A missense mutation at Ile172----Asn or Arg356----Trp causes steroid 21-hydroxylase deficiency.
Chiou, S. H., Hu, M. C., & Chung, B. C. (1990) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)39804-7 · Cited by 149 · see citing works
Wilson, R. C., Nimkarn, S., Dumić, M., Obeid, J. S., Azar, M. R., Najmabadi, H., Saffari, F., & New, M. I. (2007) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2006.12.005 · Cited by 140 · see citing works
Self-citationCutting, G. R., Kasch, L. M., Rosenstein, B. J., Tsui, L., Kazazian, H. H., & Antonarakis, S. E. (1990) · New England Journal of Medicine · doi:10.1056/nejm199012133232407 · Cited by 141 · see citing works
Knebelmann, B., Boussin, L., Guerrier, D., Legeai‐Mallet, L., Kahn, A., Josso, N., & Picard, J. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.9.3767 · Cited by 136 · see citing works
Hamosh, A., Trapnell, B. C., Zeitlin, P. L., Montrose‐Rafizadeh, C., Rosenstein, B. J., Crystal, R. G., & Cutting, G. R. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115510 · Cited by 136 · see citing works
Mutations in steroid 21-hydroxylase (CYP21)
White, P. C., Tusie-Luna, M.-T., New, M. I., & Speiser, P. W. (1994) · Human Mutation · doi:10.1002/humu.1380030408 · Cited by 129 · see citing works
Self-citationTHE MOLECULAR GENETICS OF 21-HYDROXYLASE DEFICIENCY
Miller, W. L., & Morel, Y. (1989) · Annual Review of Genetics · doi:10.1146/annurev.ge.23.120189.002103 · Cited by 127 · see citing works
<i>CYP21A2</i>mutation update: Comprehensive analysis of databases and published genetic variants
Simonetti, L., Bruque, C. D., Fernández, C. S., Benavides-Mori, B., Delea, M., Kolomenski, J. E., Espeche, L. D., Buzzalino, N. D., Nadra, A. D., & Dain, L. (2018) · Human Mutation · doi:10.1002/humu.23351 · Cited by 122 · see citing works
Analysis of steroid 21-hydroxylase gene mutations in the Spanish population
Ezquieta, B., Oliver, A., Gracía, R., & Gancedo, P. G. (1995) · Human Genetics · doi:10.1007/bf00207379 · Cited by 114 · see citing works
Baumgartner-Parzer, S., Witsch-Baumgartner, M., & Hoeppner, W. (2020) · European Journal of Human Genetics · doi:10.1038/s41431-020-0653-5 · Cited by 110 · see citing works
Speiser, P., Agdere, L., Ueshiba, H., White, P. C., & New, M. I. (1991) · New England Journal of Medicine · doi:10.1056/nejm199101173240302 · Cited by 106 · see citing works
Self-citationThe Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
Pignatelli, D., Carvalho, B. L., Palmeiro, A., Barros, A., Guerreiro, S. G., & Macut, D. (2019) · Frontiers in Endocrinology · doi:10.3389/fendo.2019.00432 · Cited by 95 · see citing works
White, P. C., & New, M. I. (1992) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.74.1.1727830 · Cited by 90 · see citing works
Self-citationWu, D. A., & Chung, B. C. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115334 · Cited by 80 · see citing works
Collier, S., Tassabehji, M., & Strachan, T. (1993) · Nature Genetics · doi:10.1038/ng0393-260 · Cited by 82 · see citing works
Steroid 21-hydroxylase (P450c21): a new allele and spread of mutations through the pseudogene
Wedell, A., & Luthman, H. (1993) · Human Genetics · doi:10.1007/bf00218263 · Cited by 81 · see citing works
Biochemical and genetic diagnosis of 21-hydroxylase deficiency
Falhammar, H., Wedell, A., & Nordenström, A. (2015) · Endocrine · doi:10.1007/s12020-015-0731-6 · Cited by 80 · see citing works
Owerbach, D., Crawford, Y. M., & Draznin, M. B. (1990) · Molecular Endocrinology · doi:10.1210/mend-4-1-125 · Cited by 74 · see citing works
Carrera, P., Bordone, L., Azzani, T., Brunelli, V., Garancini, M. P., Chiumello, G., & Ferrari, M. (1996) · Human Genetics · doi:10.1007/s004390050280 · Cited by 73 · see citing works
Barbat, B., Bogyo, A., Raux-Demay, M.-C., Kuttenn, F., Boué, J., Simon-Bouy, B., Serre, J.-L., Boué, A., & Mornet, E. (1995) · Human Mutation · doi:10.1002/humu.1380050205 · Cited by 68 · see citing works
Ordóñez-Sánchez, M. L., Ramı́rez-Jiménez, S., López-Gutierrez, A. U., Riba, L., Gamboa-Cardiel, S., Cerrillo-Hinojosa, M., Altamirano-Bustamante, N. F., Calzada‐León, R., Robles-Valdés, C., Mendoza-Morfín, F., et al. (1998) · Human Genetics · doi:10.1007/s004390050672 · Cited by 66 · see citing works
Chuzhanova, N. A., Chen, J., Bacolla, A., Patrinos, G. P., Férec, C., Wells, R. D., & Cooper, D. N. (2009) · Human Mutation · doi:10.1002/humu.21020 · Cited by 65 · see citing works
Molecular Genetics of 21- Hydroxylase Deficiency
Wedell, A. (2010) · Endocrine development · doi:10.1159/000321223 · Cited by 64 · see citing works
Steroid 21 Hydroxylase Deficiency Congenital Adrenal Hyperplasia
Nimkarn, S., Lin‐Su, K., & New, M. I. (2011) · Pediatric Clinics of North America · doi:10.1016/j.pcl.2011.07.012 · Cited by 62 · see citing works
Self-citationCYP21 mutations and congenital adrenal hyperplasia
Lee, H. (2001) · Clinical Genetics · doi:10.1034/j.1399-0004.2001.590501.x · Cited by 63 · see citing works
Wedell, A., Haglund-Stengler, B., & Luthman, H. (1994) · Human Genetics · doi:10.1007/bf02272841 · Cited by 57 · see citing works
Gene conversion in steroid 21-hydroxylase genes.
(1990) · Europe PMC (PubMed Central) · Cited by 55 · see citing works
Steroid 21 hydroxylase deficiency congenital adrenal hyperplasia
Nimkarn, S., Lin-Su, K., & New, M. I. (2009) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/j.ecl.2009.08.001 · Cited by 52 · see citing works
Self-citationHuynh, T., McGown, I. N., Cowley, D. M., Nyunt, O., Leong, G. M., Harris, M. A., & Cotterill, A. M. (2009) · PubMed Central · Cited by 47 · see citing works
Nimkarn, S., & New, M. I. (2007) · Nature Clinical Practice Endocrinology & Metabolism · doi:10.1038/ncpendmet0481 · Cited by 47 · see citing works
Self-citationPRENATAL TREATMENT OF CONGENITAL ADRENAL HYPERPLASIA
New, M. I. (2001) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(08)70016-1 · Cited by 45 · see citing works
Self-citationHu, M.-C., & Chung, B.-C. (1990) · Molecular Endocrinology · doi:10.1210/mend-4-6-893 · Cited by 43 · see citing works
Genetic Diseases of Steroid Metabolism
White, P. C. (1994) · Vitamins and hormones · doi:10.1016/s0083-6729(08)61147-4 · Cited by 42 · see citing works
Self-citationKoyama, S., Toyoura, T., Saisho, S., Shimozawa, K., & Yata, J. (2002) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jcem.87.6.8522 · Cited by 41 · see citing works
Rapid screening method for detecting mutations in the 21-hydroxylase gene
Oriola, J., Plensa, I., Machuca, I., Pavía, C., & Rivera‐Fillat, F. (1997) · Clinical Chemistry · doi:10.1093/clinchem/43.4.557 · Cited by 36 · see citing works
Identification of two novel mutations in non‐Jewish factor XI deficiency
Imanaka, Y., Lal, K., Nishimura, T., Bolton‐Maggs, P. H. B., Tuddenham, E. G. D., & McVey, J. H. (1995) · British Journal of Haematology · doi:10.1111/j.1365-2141.1995.tb05215.x · Cited by 36 · see citing works
21-hydroxylase deficiency congenital adrenal hyperplasia
New, M. I. (1994) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(94)90246-1 · Cited by 36 · see citing works
Self-citationMolecular genetic analysis of CYP21A2 gene in patients with congenital adrenal hyperplasia
Ammini, A., Marumudi, E., Sharma, A., Kulshreshtha, B., Khadgawat, R., & Khurana, M. (2012) · Indian Journal of Endocrinology and Metabolism · doi:10.4103/2230-8210.95679 · Cited by 33 · see citing works
Janner, M., Pandey, A. V., Mullis, P. E., & Flück, C. E. (2006) · European Journal of Endocrinology · doi:10.1530/eje.1.02172 · Cited by 33 · see citing works
Chen, J., & Férec, C. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3086 · Cited by 33 · see citing works
Molecular Diagnosis of CYP21 Mutations in Congenital Adrenal Hyperplasia
Speiser, P. (2001) · American Journal of PharmacoGenomics · doi:10.2165/00129785-200101020-00003 · Cited by 33 · see citing works
Lobato, M. N., Ordóñez-Sánchez, M. L., Tusié-Luna, M. T., & Meseguer, A. (1999) · Human Heredity · doi:10.1159/000022866 · Cited by 30 · see citing works
MOLECULAR PATHOLOGY OF CONGENITAL ADRENAL HYPERPLASIA
Strachan, T. (1990) · Clinical Endocrinology · doi:10.1111/j.1365-2265.1990.tb00878.x · Cited by 31 · see citing works
History of Adrenal Research: From Ancient Anatomy to Contemporary Molecular Biology
Miller, W. L., & White, P. C. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnac019 · Cited by 31 · see citing works
Self-citationGenetic disorders of steroid hormone synthesis and metabolism
New, M. I., & White, P. C. (1995) · Baillière s Clinical Endocrinology and Metabolism · doi:10.1016/s0950-351x(95)80587-7 · Cited by 27 · see citing works
Self-citationMigeon, C. J., & Donohoue, P. A. (1991) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(18)30269-x · Cited by 27 · see citing works
WU, D.-A., Hu, M., & Chung, B. (1991) · DNA and Cell Biology · doi:10.1089/dna.1991.10.201 · Cited by 27 · see citing works
Evolutionary origin of mutations in the primate cytochrome P450c21 gene.
Kawaguchi, H., O'hUigin, C., & Klein, J. (1992) · Europe PMC (PubMed Central) · Cited by 27 · see citing works
Shoshani, T., Kerem, E., Szeinberg, A., Augarten, A., Yahav, Y., Cohen, D., Rivlin, J., Tal, A., & Kerem, B. (1994) · Journal of Clinical Investigation · doi:10.1172/jci117128 · Cited by 26 · see citing works
Molecular Defects of the CYP21A2 Gene in Greek-Cypriot Patients with Congenital Adrenal Hyperplasia
Skordis, N., Kyriakou, A., Tardy, V., Ioannou, Y. S., Varvaresou, A., Dracopoulou, M., Patsalis, P. C., Shammas, C., Neocleous, V., & Phylactou, L. A. (2010) · Hormone Research in Paediatrics · doi:10.1159/000320040 · Cited by 25 · see citing works
Congenital Adrenal Hyperplasia Owing to 21-Hydroxylase Deficiency
New, M. I., Lekarev, O., Mancenido, D., Parsa, A. A., & Yuen, T. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-416006-4.00003-x · Cited by 24 · see citing works
Self-citationSignificant association of HLA‐B and HLA‐DRB1 alleles with cleft lip with or without cleft palate
Sakata, Y., Tokunaga, K., Yonehara, Y., Bannai, M., Tsuchiya, N., Susami, T., & Takato, T. (1999) · Tissue Antigens · doi:10.1034/j.1399-0039.1999.530204.x · Cited by 22 · see citing works
Skordis, N., Shammas, C., Efstathiou, E., Kaffe, K., Neocleous, V., & Phylactou, L. A. (2011) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2011.05.013 · Cited by 22 · see citing works
6 Molecular genetics of congenital adrenal hyperplasia
White, P. C., & New, M. I. (1988) · Baillière s Clinical Endocrinology and Metabolism · doi:10.1016/s0950-351x(88)80025-9 · Cited by 22 · see citing works
Self-citationAnalysis of Mutations Causing Steroid 21-hydroxylase Deficiency
White, P. C. (1989) · Endocrine Research · doi:10.1080/07435808909039099 · Cited by 22 · see citing works
Self-citationIyamu, W. E., Adunyah, S. E., Fasold, H., Horiuchi, K., Elford, H. L., Asakura, T., & Turner, E. (2000) · American Journal of Hematology · doi:10.1002/(sici)1096-8652(200004)63:4 · Cited by 27 · see citing works
Yang, M., & White, P. C. (2025) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgae535 · Cited by 20 · see citing works
Self-citationHelmberg, A., Tabarelli, M., FUCHS, M. A., Keller, E., Dobler, G., Schnegg, I., Knorr, D., Albert, E. D., & Kofler, R. (1992) · DNA and Cell Biology · doi:10.1089/dna.1992.11.359 · Cited by 20 · see citing works
Wedell, A., Xu, C. D., & Luthman, H. (1994) · Human Genetics · doi:10.1007/bf00210612 · Cited by 20 · see citing works
Ben Charfeddine, I., Riepe, F. G., Clauser, E., Ayedi, A., Makni, S., Sfar, M. T., Sboui, H., Kahloul, N., Ben Hamouda, H., Chouchane, S., et al. (2012) · Gene · doi:10.1016/j.gene.2012.07.027 · Cited by 19 · see citing works
Gene Conversion in Human Genetic Disease
Chen, J., Férec, C., & Cooper, D. N. (2010) · Genes · doi:10.3390/genes1030550 · Cited by 19 · see citing works
Will, K., Reiss, J., Dean, M. C., Schlösser, M., Słomski, R., Schmidtke, J., & Stuhrmann, M. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.10.833 · Cited by 19 · see citing works
Disorders of sex development: a genetic study of patients in a multidisciplinary clinic
Laino, L., Majore, S., Preziosi, N., Grammatico, B., Bernardo, C. D., Scommegna, S., Rapone, A. M., Marrocco, G. A., Bottillo, I., & Grammatico, P. (2014) · Endocrine Connections · doi:10.1530/ec-14-0085 · Cited by 19 · see citing works
Bobba, A., Iolascon, A., Giannattasio, S., Albrizio, M., Sinisi, A. M., Prisco, F., Schettini, F., & Marra, E. (1997) · Journal of Medical Genetics · doi:10.1136/jmg.34.3.223 · Cited by 19 · see citing works
Doleschall, M., Luczay, A., Klara, K., Hadzsiev, K., Erhardt, É., Szilágyi, Á., Doleschall, Z., Németh, K., Török, D., Prohászka, Z., et al. (2017) · European Journal of Human Genetics · doi:10.1038/ejhg.2017.38 · Cited by 18 · see citing works
Zhang, H., Yang, J., Zhang, M., Zhang, W., Liu, J., Wang, W., Ning, G., & Li, X. (2008) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2008.03356.x · Cited by 18 · see citing works
CYP21/C4 gene organisation in Italian 21-hydroxylase deficiency families
Sinnott, P. J., Livieri, C., Sampietro, M., Marconi, M., Harris, R., Severi, F., & Strachan, T. (1992) · Human Genetics · doi:10.1007/bf00219342 · Cited by 17 · see citing works
Adachi, E., Nakagawa, R., Tsuji-Hosokawa, A., Gau, M., Kirino, S., Yogi, A., Nakatani, H., Takasawa, K., Yamaguchi, T., Kosho, T., et al. (2024) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgad577 · Cited by 16 · see citing works
Molecular pathology of steroid 21-hydroxylase deficiency
Strachan, T., & White, P. C. (1991) · The Journal of Steroid Biochemistry and Molecular Biology · doi:10.1016/0960-0760(91)90274-9 · Cited by 16 · see citing works
Self-citationExtended MHC haplotypes and CYP21/C4 gene organisation in Irish 21-hydroxylase deficiency families
Sinnott, P. J., Costigan, C., Dyer, P. A., Harris, R., & Strachan, T. (1991) · Human Genetics · doi:10.1007/bf00200920 · Cited by 16 · see citing works
Antenatal diagnosis and treatment of congenital adrenal hyperplasia
New, M. I. (2001) · Current Urology Reports · doi:10.1007/s11934-001-0020-1 · Cited by 15 · see citing works
Self-citationWedell, A. (1996) · Clinics in Laboratory Medicine · doi:10.1016/s0272-2712(18)30291-9 · Cited by 15 · see citing works
Tantirukdham, N., Sahakitrungruang, T., Chaisiwamongkol, R., Pongpanich, M., Srichomthong, C., Assawapitaksakul, A., Buasong, A., Tongkobpetch, S., Yeetong, P., & Shotelersuk, V. (2022) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/clinem/dgac187 · Cited by 14 · see citing works
Who is a carrier? Detection of unsuspected mutations in 21-hydroxylase deficiency
Witchel, S., Lee, P. A., & Trucco, M. (1996) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19960102)61:1 · Cited by 14 · see citing works
Molecular Genetics of the Class III Region of the HLA Complex
White, P. C. (1989) · Springer eBooks · doi:10.1007/978-3-662-39946-0_6 · Cited by 13 · see citing works
Self-citationLee, C.-T., Tung, Y., Hsiao, P.-H., Lee, J.-S., & Tsai, W. (2010) · Journal of the Formosan Medical Association · doi:10.1016/s0929-6646(10)60035-6 · Cited by 13 · see citing works
Goossens, K., Juniarto, A. Z., Timmerman, M. A., Faradz, S. M., Wolffenbuttel, K. P., Drop, S. L. S., & de Jong, F. H. (2009) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2009.03550.x · Cited by 11 · see citing works
Molecular genetics of congenital adrenal hyperplasia
Strachan, T. (1989) · Trends in Endocrinology and Metabolism · doi:10.1016/1043-2760(89)90005-2 · Cited by 10 · see citing works
di Montemuros, F. M., Pierro, E. D., Fargion, S. R., Biolcati, G., Griso, D., Macr�, A., Fiorelli, G., & Cappellini, M. D. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200005)15:5 · Cited by 14 · see citing works
Elmougy, F., Elsharkawy, M., Hafez, M. M., ELatty, S. A., Baz, H., Ibrahim, A. M., Soliman, H. M. A. L., Ekladious, S., Abdullatif, M., Thabet, G. M., et al. (2020) · Journal of Endocrinological Investigation · doi:10.1007/s40618-020-01271-z · Cited by 8 · see citing works
Fanis, P., Skordis, N., Toumba, M., Picolos, M. K., Tanteles, G. A., Neocleous, V., & Phylactou, L. A. (2023) · Frontiers in Endocrinology · doi:10.3389/fendo.2023.1156616 · Cited by 7 · see citing works
Olerup, O., Luthman, H., Ritzén, E. M., & Haglund-Stengler, B. (1990) · Human Genetics · doi:10.1007/bf00194218 · Cited by 7 · see citing works
Collier, S., Tassabehji, M., & Strachan, T. (1992) · Genome Research · doi:10.1101/gr.1.3.181 · Cited by 7 · see citing works
Alu repeats in the human factor IX gene: The rate of polymorphism is not substantially elevated
Dutton, C. M., Bottema, C. D. K., & Sommer, S. S. (1993) · Human Mutation · doi:10.1002/humu.1380020607 · Cited by 6 · see citing works
Rammensee, H., Bachmann, J., & Stevanović, S. (1997) · Molecular biology intelligence unit · doi:10.1007/978-3-662-22162-4_2 · Cited by 5 · see citing works
Malíková, J., Votava, F., Vrzalová, Z., Lebl, J., & Cinek, O. (2012) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2012.04358.x · Cited by 5 · see citing works
Prenatal Diagnosis of Steroid 21-Hydroxylase Deficiency by Allele-Specific Amplification
Theodoropoulou, M., Barta, C., Szöke, M., Guttman, A., Staub, M., Niederland, T., Sólyom, J., Fekete, G., & Sasvári‐Székely, M. (2001) · Fetal Diagnosis and Therapy · doi:10.1159/000053918 · Cited by 5 · see citing works
Jiang, L., Song, L., Wang, H., Wang, J. L., Wang, P. P., Zhou, H. B., & Zhang, X. L. (2012) · PubMed · doi:10.3275/7860 · Cited by 5 · see citing works
- Authors
- Globerman, H., Amor, M., Parker, K. L., New, M. I., & White, P. C.
- Affiliations
- Cornell University (US)
- Howard Hughes Medical Institute (US)
- ORCID
- White, P C
- Venue
- Journal of Clinical Investigation
- Published
- 1988-07-01
- Volume
- 82
- Issue
- 1
- Pages
- 139-144
- ISSN
- 0021-9738 (ISSN-L)
- PMC
- PMC303487
- OpenAlex
- W2038517627
- Cited by
- 130
- References
- 44
- Citations by year
- 2025: 2 · 2024: 1 · 2023: 3 · 2022: 4 · 2021: 2 · 2020: 3 · 2019: 3 · 2018: 2 · 2017: 2 · 2016: 1 · 2015: 1 · 2014: 1 · 2013: 2 · 2012: 5
- FWCI
- 3.56
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Journal of Clinical Investigation (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Charles H. Revson Foundation
- American Philosophical Society
- National Cancer Institute (CA 22507)
- National Institute of Diabetes and Digestive and Kidney Diseases (DK-37867)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (HD 00072)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Keywords
- 21-hydroxylase deficiency, nonsense mutation, congenital adrenal hyperplasia, salt-wasting form, premature stop codon, gene conversion
- MeSH terms
- Adrenal Hyperplasia, Congenital, Amino Acid Sequence, Base Sequence, Codon, Genes, Humans, Molecular Sequence Data, Mutation, Nucleic Acid Hybridization, Oligonucleotides, Steroid Hydroxylases, Steroid 21-Hydroxylase, Transfection
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