A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

Faiyaz‐Ul‐Haque, Muhammad; Zaidi, Syed Hassan Ejaz; Al‐Ali, Mariam; Al‐Mureikhi, Mariam S.; Kennedy, Shelley; Al‐Thani, Ghalia; Tsui, Lap‐Chee; Teebi, Ahmad Said

doi:10.1002/ajmg.a.30005

Cited by 111Connective tissue disorders researchGenomics and Rare DiseasesDermatological and Skeletal Disorders

A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

Faiyaz‐Ul‐Haque, Muhammad, Zaidi, Syed Hassan Ejaz, Al‐Ali, Mariam, Al‐Mureikhi, Mariam S., Kennedy, Shelley, Al‐Thani, Ghalia, Tsui, Lap‐Chee, Teebi, Ahmad Said·2004·American Journal of Medical Genetics Part A

DOI 10.1002/ajmg.a.30005

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Abstract

The Ehlers–Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders characterized by skin hyperextensibility, joint hypermobility, and tissue fragility. Several genes have been implicated to result in EDS phenotypes. The progeroid type of EDS is characterized by wrinkled, loose skin on the face, curly fine hair, scanty eyebrows and eyelashes, in addition to the classical features of EDS. Here we describe two similarly affected individuals in two sibships of a large consanguineous family from Qatar. DNA samples from affected and unaffected members of the family were analyzed for homozygosity of polymorphic markers associated with genes that have been implicated in EDS. Among 28 markers analyzed, homozygosity was only observed for D5S469 and D5S2111, which were markers for galactosyltransferase‐I (B4GALT7) located on chromosome 5q35.2, where the previously reported progeroid‐like variant of EDS has been mapped. Exons harboring the coding regions and exon–intron junctions of B4GALT7 were amplified by PCR and examined for mutations. A homozygous misssense C to T substitution at nucleotide 808 in the coding region was discovered in both affected individuals. The carrier parents were heterozygous for this mutation, which was not found among 76 DNA samples from control individuals of the same ethnicity. Segregation of this novel mutation in the family further confirmed the allelic variant and its recessive mode of inheritance in this type of EDS. The C to T substitution results in an arginine to cysteine change at amino acid residue 270 that is located in the catalytically active extracellular C‐terminal domain. This change could result in abnormal protein folding and/or aberrant interactions of mutated galactosyltransferase‐I with other extracellular matrix proteins leading to the development of a progeroid‐like phenotype in affected individuals. © 2004 Wiley‐Liss, Inc.

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The ages at publication of spEDS-B4GALT7 patients ranged from 2 years to 33 years.
“The ages at publication ranged from 2 years to 33 years [Kresse et al., 1987, Faiyaz-Ul-Haque et al., 2004, Guo et al., 2013, Arunrut et al., 2016, Salter et al., 2016].”
From The Ehlers–Danlos syndromes, rare types (2017) · cites this paper as Faiyaz-Ul-Haque et al., 2004

A simple salting out procedure for extracting DNA from human nucleated cells
Miller, S. A., Dykes, D. D., & Polesky, H. F. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.3.1215 · Cited by 20,341 · see citing works
Mice That Lack Thrombospondin 2 Display Connective Tissue Abnormalities That Are Associated with Disordered Collagen Fibrillogenesis, an Increased Vascular Density, and a Bleeding Diathesis
Kyriakides, T. R., Zhu, Y.-H., Smith, L. T., Bain, S. D., Yang, Z., Lin, M. T., Danielson, K. G., Iozzo, R. V., LaMarca, M. E., McKinney, C. E., et al. (1998) · The Journal of Cell Biology · doi:10.1083/jcb.140.2.419 · Cited by 503 · see citing works
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Corsi, A., Xu, T., Chen, X., BOYDE, A., Liang, J., Mankani, M. H., Sommer, B., Iozzo, R. V., Eichstetter, I., Robey, P. G., et al. (2002) · Journal of Bone and Mineral Research · doi:10.1359/jbmr.2002.17.7.1180 · Cited by 462 · see citing works
Mice deficient in small leucine-rich proteoglycans: novel in vivo models for osteoporosis, osteoarthritis, Ehlers-Danlos syndrome, muscular dystrophy, and corneal diseases
Ameye, L., & Young, M. F. (2002) · Glycobiology · doi:10.1093/glycob/cwf065 · Cited by 431 · see citing works
Human Ehlers-Danlos Syndrome Type VII C and Bovine Dermatosparaxis Are Caused by Mutations in the Procollagen I N-Proteinase Gene
Colige, A., Sieron, A. L., Li, S.-W., Schwarze, U., Petty, E., Wertelecki, W., Wilcox, W., Krakow, D., Cohn, D. H., Reardon, W., et al. (1999) · The American Journal of Human Genetics · doi:10.1086/302504 · Cited by 370 · see citing works
Growth retardation and early death of β‐1, 4‐galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells
Asano, M., Furukawa, K., Kido, M., Matsumoto, S., Umesaki, Y., Kochibe, N., & Iwakura, Y. (1997) · The EMBO Journal · doi:10.1093/emboj/16.8.1850 · Cited by 270 · see citing works
Cloning and Expression of a Proteoglycan UDP-Galactose:β-Xylose β1,4-Galactosyltransferase I
Almeida, R., Levery, S. B., Mandel, U., Kresse, H., Schwientek, T., Bennett, E., & Clausen, H. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.37.26165 · Cited by 234 · see citing works
The Ehlers-Danlos syndrome: on beyond collagens
Mao, J.-R., & Bristow, J. (2001) · Journal of Clinical Investigation · doi:10.1172/jci12881 · Cited by 233 · see citing works
Structure/function studies of glycosyltransferases
Breton, C., & Imberty, A. (1999) · Current Opinion in Structural Biology · doi:10.1016/s0959-440x(99)00006-8 · Cited by 195 · see citing works
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Yeowell, H. N., & Walker, L. C. (2000) · Molecular Genetics and Metabolism · doi:10.1006/mgme.2000.3076 · Cited by 176 · see citing works
Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome
Okajima, T., Fukumoto, S., Furukawa, K., Urano, T., & Furukawa, K. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.41.28841 · Cited by 157 · see citing works
Targeted Mutation in β1,4-Galactosyltransferase Leads to Pituitary Insufficiency and Neonatal Lethality
Lu, Q., Hasty, P., & Shur, B. D. (1997) · Developmental Biology · doi:10.1006/dbio.1996.8444 · Cited by 147 · see citing works
Structural and functional features of glycosyltransferases
Breton, C., Mucha, J., & Jeanneau, C. (2001) · Biochimie · doi:10.1016/s0300-9084(01)01298-6 · Cited by 136 · see citing works
Molecular cloning of a human cDNA encoding β-1,4-galactosyltransferase with 37% identity to mammalian UDP-Gal:GlcNAc β-1,4-galactosyltransferase
Sato, T., Furukawa, K., Bakker, H., EIJNDEN, D. H. V. D., & van Die, I. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.2.472 · Cited by 124 · see citing works
Glycosaminoglycan-free small proteoglycan core protein is secreted by fibroblasts from a patient with a syndrome resembling progeroid.
(1987) · Europe PMC (PubMed Central) · Cited by 98 · see citing works
A distinct variant of the Ehlers‐Danlos syndrome
Hernández, A., Aguirre‐Negrete, M. G., Ramírez‐Soltero, S., González‐Mendoza, A., Martínez, R. M., Velázquez‐Cabrera, A., & Cantú, J. M. (1979) · Clinical Genetics · doi:10.1111/j.1399-0004.1979.tb01012.x · Cited by 45 · see citing works
Identification of a Drosophila Gene Encoding Xylosylprotein β4-Galactosyltransferase That Is Essential for the Synthesis of Glycosaminoglycans and for Morphogenesis
Nakamura, Y., Haines, N., Chen, J., Okajima, T., Furukawa, K., Urano, T., Stanley, P., Irvine, K. D., & Furukawa, K. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m203873200 · Cited by 45 · see citing works
Targeted mutations in β1,4-galactosyltransferase I reveal its multiple cellular functions
Rodeheffer, C., & Shur, B. D. (2002) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/s0304-4165(02)00392-6 · Cited by 41 · see citing works
Ehlers‐Danlos features with progeroid facies and mild mental retardation: Further delineation of the syndrome
Hernández, A., Aguirre‐Negrete, M. G., González‐Flores, S., Reynoso‐Luna, M. C., Fragoso, R., Nazará, Z., AND, G. T., & Cantú, J. M. (1986) · Clinical Genetics · doi:10.1111/j.1399-0004.1986.tb01910.x · Cited by 38 · see citing works
Inherited Disorders of Glycoprotein Synthesis: Cell Biological Insights
McDowell, G., & Gahl, W. A. (1997) · Experimental Biology and Medicine · doi:10.3181/00379727-215-44121 · Cited by 33 · see citing works
Galactosyltransferase I is a gene responsible for progeroid variant of Ehlers-Danlos syndrome: molecular cloning and identification of mutations
Furukawa, K., & Okajima, T. (2002) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/s0304-4165(02)00406-3 · Cited by 28 · see citing works
Third case of a distinct variant of the Ehlers‐Danlos Syndrome (EDS)
Hernández, A., Aguirre‐Negrete, M. G., Liparoli, J. C., & Cantú, J. M. (1981) · Clinical Genetics · doi:10.1111/j.1399-0004.1981.tb01833.x · Cited by 27 · see citing works
Ehlers-Danlos syndromes: Revised nosology, Villefranche, 1997
Beighton, P., Paepe, A. D., Steinmann, B., Tsipouras, P., & Wenstrup, R. J. (1998) · American Journal of Medical Genetics · doi:10.1002/(sici)1096-8628(19980428)77:1

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Site-specific protein O-glycosylation modulates proprotein processing — Deciphering specific functions of the large polypeptide GalNAc-transferase gene family
Schjoldager, K. T.-B. G., & Clausen, H. (2012) · Biochimica et Biophysica Acta (BBA) - General Subjects · doi:10.1016/j.bbagen.2012.09.014 · Cited by 193 · see citing works
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Wopereis, S., Lefeber, D. J., Morava, É., & Wevers, R. A. (2006) · Clinical Chemistry · doi:10.1373/clinchem.2005.063040 · Cited by 187 · see citing works
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Gensemer, C., Burks, R., Kautz, S. A., Judge, D. P., Lavallee, M. E., & Norris, R. A. (2020) · Developmental Dynamics · doi:10.1002/dvdy.220 · Cited by 151 · see citing works
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Nakajima, M., Mizumoto, S., Miyake, N., Kogawa, R., Iida, A., Ito, H., Kitoh, H., Hirayama, A., Mitsubuchi, H., Miyazaki, O., et al. (2013) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2013.04.003 · Cited by 137 · see citing works
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Vermeij, W. P., Hoeijmakers, J. H. J., & Pothof, J. (2015) · The Annual Review of Pharmacology and Toxicology · doi:10.1146/annurev-pharmtox-010814-124316 · Cited by 123 · see citing works
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Vissers, L. E. L. M., Lausch, E. U., Unger, S., Campos‐Xavier, B., Gilissen, C., Rossi, A., del Rosario, M., Venselaar, H., Knoll, U., Nampoothiri, S., et al. (2011) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.04.002 · Cited by 100 · see citing works
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Freeze, H. H., & Ng, B. G. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a005371 · Cited by 81 · see citing works
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Ritelli, M., Dordoni, C., Cinquina, V., Venturini, M., Calzavara‐Pinton, P., & Colombi, M. (2017) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-017-0704-3 · Cited by 36 · see citing works
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Bui, C., Talhaoui, I., Chabel, M., Mulliert, G., Coughtrie, M. W. H., Ouzzine, M., & Fournel-Gigleux, S. (2010) · FEBS Letters · doi:10.1016/j.febslet.2010.08.001 · Cited by 27 · see citing works
Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype
Job, F., Mizumoto, S., Smith, L. D., Couser, N. L., Brazil, A., Saal, H. M., Patterson, M., Gibson, M., Soden, S. E., Miller, N., et al. (2016) · BMC Medical Genetics · doi:10.1186/s12881-016-0344-9 · Cited by 27 · see citing works
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Delbaere, S., Damme, T. V., Syx, D., Symoens, S., Coucke, P. J., Willaert, A., & Malfait, F. (2019) · Matrix Biology · doi:10.1016/j.matbio.2019.12.002 · Cited by 25 · see citing works
The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review
Colman, M., Damme, T. V., Steichen‐Gersdorf, E., Laccone, F. A., Nampoothiri, S., Syx, D., Guillemyn, B., Symoens, S., & Malfait, F. (2019) · Orphanet Journal of Rare Diseases · doi:10.1186/s13023-019-1110-9 · Cited by 24 · see citing works
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Arunrut, T., Sabbadini, M., Jain, M., Machol, K., Scaglia, F., & Slavotinek, A. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37809 · Cited by 23 · see citing works
Skeletal and Bone Mineral Density Features, Genetic Profile in Congenital Disorders of Glycosylation: Review
Lipiński, P., Stępień, K. M., Ciara, E., Tylki‐Szymańska, A., & Jezela‐Stanek, A. (2021) · Diagnostics · doi:10.3390/diagnostics11081438 · Cited by 23 · see citing works
Evidence of biglycan structure-function in bone homeostasis and aging
Miguez, P. A. (2019) · Connective Tissue Research · doi:10.1080/03008207.2019.1669577 · Cited by 22 · see citing works
Thermodynamic insights into the structural basis governing the donor substrate recognition by human β1,4-galactosyltransferase 7
Daligault, F., Rahuel-Clermont, S., Gulberti, S., Cung, M. T., Branlant, G., Netter, P., Magdalou, J., & Lattard, V. (2008) · Biochemical Journal · doi:10.1042/bj20081093 · Cited by 22 · see citing works
Ehlers–Danlos Syndrome Associated with Glycosaminoglycan Abnormalities
Miyake, N., Kosho, T., & Matsumoto, N. (2013) · Advances in experimental medicine and biology · doi:10.1007/978-94-007-7893-1_10 · Cited by 21 · see citing works
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Pasek, M., Boeggeman, E. E., Ramakrishnan, B., & Qasba, P. K. (2010) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2010.03.051 · Cited by 20 · see citing works
Galactosaminoglycan Function and Oligosaccharide Structure Determination
Seidler, D. G., Peter-Katalinic, J., & Zamfir, A. D. (2007) · The Scientific World JOURNAL · doi:10.1100/tsw.2007.63 · Cited by 19 · see citing works
Biochemical and thermodynamic characterization of mutated β1,4-galactosyltransferase 7 involved in the progeroid form of the Ehlers–Danlos syndrome
Rahuel-Clermont, S., Daligault, F., Piet, M.-H., Gulberti, S., Netter, P., Branlant, G., Magdalou, J., & Lattard, V. (2010) · Biochemical Journal · doi:10.1042/bj20100921 · Cited by 19 · see citing works
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Sellars, E. A., Bosanko, K. A., Lepard, T., Garnica, A., & Schaefer, G. B. (2014) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2014.04.007 · Cited by 18 · see citing works
Alterations in glycosaminoglycan biosynthesis associated with the Ehlers-Danlos syndromes
Syx, D., Delbaere, S., Bui, C., Clercq, A. D., Larson, G., Mizumoto, S., Kosho, T., Fournel‐Gigleux, S., & Malfait, F. (2022) · American Journal of Physiology-Cell Physiology · doi:10.1152/ajpcell.00127.2022 · Cited by 16 · see citing works
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Dubail, J., & Cormier‐Daire, V. (2021) · Frontiers in Genetics · doi:10.3389/fgene.2021.642097 · Cited by 15 · see citing works
Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing
Cortini, F., Villa, C., Marinelli, B., Combi, R., Pesatori, A. C., & Bassotti, A. (2019) · Archives of Dermatological Research · doi:10.1007/s00403-019-01894-0 · Cited by 15 · see citing works
Decreased expression of lysyl hydroxylase 2 (LH2) in skin fibroblasts from three Ehlers-Danlos patients does not result from mutations in either the coding or proximal promoter region of the LH2 gene
Walker, L. C., Teebi, A. S., Marini, J. C., Paepe, A. D., Malfait, F., Atsawasuwan, P., Yamauchi, M., & Yeowell, H. N. (2004) · Molecular Genetics and Metabolism · doi:10.1016/j.ymgme.2004.07.013 · Cited by 11 · see citing works
Self-citation
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Burrows, N. (2019) · Wiley eBooks · doi:10.1002/9781119142812.ch93 · Cited by 11 · see citing works
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Sandler-Wilson, C., Wambach, J., Marshall, B. A., Wegner, D., McAlister, W. H., Cole, F. S., & Shinawi, M. S. (2019) · Bone · doi:10.1016/j.bone.2019.03.029 · Cited by 10 · see citing works
Substrate specificity of lysyl hydroxylase isoforms and multifunctionality of lysyl hydroxylase 3
Risteli, M. (2008) · Cited by 10 · see citing works
Marfanoid hypermobility caused by an 862 kb deletion of Xq22.3 in a patient with Sotos syndrome
Shimojima, K. Y., Okanishi, T., & Yamamoto, T. (2011) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.34164 · Cited by 9 · see citing works
Les syndromes d’Ehlers-Danlos
Germain, D. P. (2017) · Annales de Dermatologie et de Vénéréologie · doi:10.1016/j.annder.2017.06.017 · Cited by 8 · see citing works
Diagnostic dilemma's: The congenital disorders of glycosylation are clinical chameleons
Coman, D. J. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201962 · Cited by 8 · see citing works
Absence of the dermatan sulfate chain of decorin does not affect mouse development
Moffatt, P., Geng, Y., Lamplugh, L., Nanci, A., & Roughley, P. J. (2017) · Journal of Negative Results in BioMedicine · doi:10.1186/s12952-017-0074-3 · Cited by 7 · see citing works
Keeping an eye on congenital disorders of O-glycosylation: a systematic literature review
Francisco, R., Pascoal, C., Marques‐da‐Silva, D., Morava, É., Gole, G. A., Coman, D. J., Jaeken, J., & Ferreira, V. D. R. (2018) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-017-0119-2 · Cited by 6 · see citing works
Diseases Associated with Carbohydrates/Glycoconjugates*
Eklund, E. A., Bode, L., & Freeze, H. H. (2007) · Elsevier eBooks · doi:10.1016/b978-044451967-2/00098-2 · Cited by 6 · see citing works
Primary Disorders of Connective Tissue
Cole, W. G., & Mäkitie, O. (2015) · Elsevier eBooks · doi:10.1016/b978-0-323-24145-8.00054-5 · Cited by 6 · see citing works
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Byers, P. H. (2013) · Elsevier eBooks · doi:10.1016/b978-0-12-383834-6.00161-0 · Cited by 6 · see citing works
Determination of β4-galactosyltransferase-7 activity using high-performance liquid chromatography–electrospray ionization tandem mass spectrometry
Kühn, J., Kleesiek, K., & Götting, C. (2008) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2008.12.009 · Cited by 6 · see citing works
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Pantham, P., Armstrong, D. L., Bodnariuc, J., Haupt, O., Johnson, A. J. W., Underhill, L. A., Iozzo, R. V., Lechner, B. E., & Wildman, D. E. (2020) · Biology of Reproduction · doi:10.1093/biolre/ioaa205 · Cited by 5 · see citing works
Les syndromes d’Ehlers–Danlos : classification, diagnostics différentiels et traitements
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Ehlers–Danlos Syndromes
Burrows, N., Sidhu‐Malik, N., & Yeowell, H. N. (2011) · Harper's Textbook of Pediatric Dermatology · doi:10.1002/9781444345384.ch142 · Cited by 5 · see citing works
Genetics of the Ehlers–Danlos syndrome: More than collagen disorders
Van Damme, T., Syx, D., Coucke, P., Symoens, S., De Paepe, A., & Malfait, F. (2015) · Expert Opinion on Orphan Drugs · doi:10.1517/21678707.2015.1022528 · Cited by 4 · see citing works
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Premature Ageing Syndromes
Toriello, H. V. (2011) · Wiley eBooks · doi:10.1002/9781444345384.ch134 · Cited by 4 · see citing works
Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities
Miyake, N., Kosho, T., & Matsumoto, N. (2021) · Advances in experimental medicine and biology · doi:10.1007/978-3-030-80614-9_10 · Cited by 3 · see citing works
Biosynthesis and Degradation of Glycans of the Extracellular Matrix: Sulfated Glycosaminoglycans, Hyaluronan, and Matriglycan
Mikami, T., & Kitagawa, H. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-819475-1.00018-3 · Cited by 3 · see citing works
Report of two siblings with spondylodysplastic Ehlers-Danlos syndrome and B4GALT7 deficiency
Lorenz, D., Kreß, W., Zaum, A., Speer, C. P., & Hebestreit, H. U. (2021) · BMC Pediatrics · doi:10.1186/s12887-021-02767-0 · Cited by 3 · see citing works
Genetic Disorders in Qatar
Teebi, A. S., & Ben‐Omran, T. (2010) · Springer eBooks · doi:10.1007/978-3-642-05080-0_18 · Cited by 2 · see citing works
Self-citation
Introduction to Human Glycosylation Disorders
Freeze, H. H., & Eklund, E. A. (2010) · Elsevier eBooks · doi:10.1016/b978-0-12-373600-0.00017-2 · Cited by 2 · see citing works
Disorders of Glycosylation
Freeze, H. H., Ng, B., & Patterson, M. C. (2017) · Elsevier eBooks · doi:10.1016/b978-0-323-37101-8.00040-0 · Cited by 2 · see citing works
Anesthetic Considerations for a Child With Rare B3GALT6 Mutations: A Case Report
Brockel, M. A., Chatfield, K. C., Mirsky, D. M., Baker, C. D., & Janosy, N. R. (2017) · A&A Practice · doi:10.1213/xaa.0000000000000638 · Cited by 2 · see citing works
Skeletal Disorders Linked to GAG Synthesis
Huber, C., Guasto, A., Dubail, J., & Cormier‐Daire, V. (2024) · Biology of extracellular matrix · doi:10.1007/978-3-031-70835-0_5 · Cited by 1 · see citing works
Oral and maxillofacial clinical features of Ehlers–Danlos syndrome: a systematic review
Antunes, D., Nicot, R., Bovis, M., & Ferri, J. (2025) · Oral Surgery Oral Medicine Oral Pathology and Oral Radiology · doi:10.1016/j.oooo.2025.05.010 · Cited by 1 · see citing works
Application of Genomics to the Study of Human Growth Disorders
Guo, M. H., & Dauber, A. N. (2016) · Translational bioinformatics · doi:10.1007/978-981-10-1104-7_18 · Cited by 1 · see citing works
Genetic Disorders of Collagen, Elastin and Dermal Matrix
Burrows, N. (2016) · doi:10.1002/9781118441213.rtd0073 · Cited by 1 · see citing works
Molecular Genetics of Ehlers–Danlos Syndrome
Mayer, K. (2012) · Encyclopedia of Life Sciences · doi:10.1002/9780470015902.a0024295
Application of High Performance Mass Spectrometry to Structural Analysis of Glycosaminoglycan Oligosaccharides
Seidler, D. G. (2008) · NATO science for peace and security series. A, Chemistry and biology · doi:10.1007/978-1-4020-8811-7_7
Identifizierung eines Defekts der COG6-Untereinheit des Conserved Oligomeric Golgi-Komplexes
Lübbehusen, J. (2009)
Ehlers-Danlos Syndrome with B4GALT7 Mutation: A Case Report and Literature Review
武, 华. (2018) · Asian Case Reports in Pediatrics · doi:10.12677/acrp.2018.63004

A novel homozygous recessive mutation in the galactosyltransferase-I (B4GALT7) gene in individuals resembling the progeroid type of Ehlers-Danlos syndrome
haque, M. U., Teebi, A., Al‐Ali, M. T., Al‐Mureikhi, M., Kennedy, S. J., Al-Thani, G. M. H., Zaidi, S., & Tsui, L. (2003)
Self-citation
Further defining the phenotypic spectrum ofB4GALT7mutations
Salter, C. G., Davies, J. H., Moon, R. J., Fairhurst, J., Bunyan, D., Study, D., & Foulds, N. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.37604 · Cited by 36 · see citing works
Redefining the progeroid form of ehlers–danlos syndrome: Report of the fourth patient with B4GALT7 deficiency and review of the literature
Guo, M. H., Stoler, J., Lui, J., Nilsson, O., Bianchi, D. W., Hirschhorn, J. N., & Dauber, A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36128 · Cited by 52 · see citing works
Defective glycosylation of decorin and biglycan, altered collagen structure, and abnormal phenotype of the skin fibroblasts of an Ehlers–Danlos syndrome patient carrying the novel Arg270Cys substitution in galactosyltransferase I (β4GalT-7)
Seidler, D. G., Faiyaz-Ul-Haque, M., Hansen, U., Yip, G. W., Zaidi, S. H. E., Teebi, A. S., Kiesel, L., & Götte, M. (2006) · Journal of Molecular Medicine · doi:10.1007/s00109-006-0046-4 · Cited by 118 · see citing works
Self-citation
Molecular Basis for the Progeroid Variant of Ehlers-Danlos Syndrome
Okajima, T., Fukumoto, S., Furukawa, K., Urano, T., & Furukawa, K. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.41.28841 · Cited by 157 · see citing works

Authors: Faiyaz‐Ul‐Haque, M., Zaidi, S. H. E., Al‐Ali, M., Al‐Mureikhi, M. S., Kennedy, S., Al‐Thani, G., Tsui, L., & Teebi, A. S.
Affiliations: Hospital for Sick Children (CA)
Hamad Medical Corporation (QA)
Corresponding author: Faiyaz‐Ul‐Haque, Muhammad
ORCID: Zaidi, Syed Hassan Ejaz
Venue: American Journal of Medical Genetics Part A
Publisher: Wiley
Published: 2004-03-23
Volume: 128A
Issue: 1
Pages: 39-45
ISSN: 1552-4825 (ISSN-L)
1552-4833
DOI: 10.1002/ajmg.a.30005
OpenAlex: W2100230804
Cited by: 111
References: 23
Citations by year: 2026: 2 · 2025: 2 · 2024: 2 · 2022: 2 · 2021: 5 · 2020: 6 · 2019: 12 · 2018: 4 · 2017: 9 · 2016: 7 · 2015: 9 · 2014: 5 · 2013: 8 · 2012: 7
FWCI: 1.61
Type: journal article
Language: en
Open access: closed
Licence: onlinelibrary.wiley.com/termsAndConditions#vor (vor)
Locations: American Journal of Medical Genetics Part A (publishedVersion)
PubMed (publishedVersion)
The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Dermatological and Skeletal Disorders
Keywords: Ehlers-Danlos syndrome, missense mutations, consanguinity, connective tissue diseases, homozygosity mapping, recessive inheritance, extracellular domain, extracellular matrix, skin hyperextensibility
MeSH terms: Adult, Bone and Bones, DNA, Ehlers-Danlos Syndrome, Face, Female, Galactosyltransferases, Genetic Markers, Humans, Infant, Male, Pedigree, Phenotype, Polymerase Chain Reaction, Mutation, Missense

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A novel missense mutation in the galactosyltransferase‐I (B4GALT7) gene in a family exhibiting facioskeletal anomalies and Ehlers–Danlos syndrome resembling the progeroid type

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