The DOI matches its Crossref record; 37 of the 38 references it cites were found in a registry or an index.
Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation
Open accessAbstract
We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, a member of a large group of "stimulated by retinoic acid" genes encoding novel transmembrane proteins, transcription factors, and secreted signaling molecules or proteins of largely unknown function. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient's fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.
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“STRA6 gene pathogenic variants are associated with Matthew-Wood syndrome, which is in eyes presented with anophthalmia [47,181,183,184,185,186].”
From The Role of Vitamin A in Retinal Diseases (2022) · cites this paper as [185]
In the citing paper
“STRA6 mutations during development can lead to anophthalmia, microphthalmia, and other symptoms that overlap with phenotypes associated with Matthew-Wood syndrome [33].”
From Vitamin A Transporters in Visual Function: A Mini Review on Membrane Receptors for Dietary Vitamin A Uptake, Storage, and Transport to the Eye (2021) · cites this paper as [33]
Citations
Cites
Krogh, A., Larsson, B., von Heijne, G., & Sonnhammer, E. L. L. (2001) · Journal of Molecular Biology · doi:10.1006/jmbi.2000.4315 · Cited by 12,654
Merlin—rapid analysis of dense genetic maps using sparse gene flow trees
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Nature Genetics · doi:10.1038/ng786 · Cited by 3,323
PedCheck: A Program for Identification of Genotype Incompatibilities in Linkage Analysis
O'Connell, J. R., & Weeks, D. E. (1998) · The American Journal of Human Genetics · doi:10.1086/301904 · Cited by 2,063
NPS@: Network Protein Sequence Analysis
Combet, C., Blanchet, C., Geourjon, C., & Deléage, G. (2000) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(99)01540-6 · Cited by 1,761
Overview of retinoid metabolism and function
Blomhoff, R., & Blomhoff, H. K. (2006) · Journal of Neurobiology · doi:10.1002/neu.20242 · Cited by 981
TopPred II: an improved software for membrane protein structure predictions
Claros, M. G., & von HEIJNE, G. (1994) · Computer applications in the biosciences · doi:10.1093/bioinformatics/10.6.685 · Cited by 939
A Membrane Receptor for Retinol Binding Protein Mediates Cellular Uptake of Vitamin A
Kawaguchi, R., Yu, J., Honda, J., Hu, J., Whitelegge, J., Ping, P., Wiita, P., Bok, D., & Sun, H. (2007) · Science · doi:10.1126/science.1136244 · Cited by 836
Allegro, a new computer program for multipoint linkage analysis
Gudbjartsson, D. F., Jónasson, K., Frigge, M. L., & Kong, A. (2000) · Nature Genetics · doi:10.1038/75514 · Cited by 785
STAT proteins: From normal control of cellular events to tumorigenesis
Calò, V., Migliavacca, M., Bazan, V., Macaluso, M., Buscemi, M., Gebbia, N., & Russo, A. D. (2003) · Journal of Cellular Physiology · doi:10.1002/jcp.10364 · Cited by 616
ELM server: a new resource for investigating short functional sites in modular eukaryotic proteins
Puntervoll, P. (2003) · Nucleic Acids Research · doi:10.1093/nar/gkg545 · Cited by 597
Congenital diaphragmatic hernia. Epidemiology and outcome.
Langham, M. R., Kays, D. W., Ledbetter, D. J., Frentzen, B. H., Sanford, L. L., & RICHARDS, D. S. (1996) · PubMed · Cited by 584
Mutations in SOX2 cause anophthalmia
Fantes, J. A., Ragge, N., Lynch, S. A., McGill, N. I., Collin, J. R. O., Howard‐Peebles, P. N., Hayward, C., Vivian, A. J., Williamson, K. A., van Heyningen, V., et al. (2003) · Nature Genetics · doi:10.1038/ng1120 · Cited by 538
Self-citationGRR: graphical representation of relationship errors
Abecasis, G. R., Cherny, S. S., Cookson, W., & Cardon, L. R. (2001) · Bioinformatics · doi:10.1093/bioinformatics/17.8.742 · Cited by 383
Physiological Substrates of cAMP-Dependent Protein Kinase
Shabb, J. B. (2001) · Chemical Reviews · doi:10.1021/cr000236l · Cited by 378
Congenital Diaphragmatic Hernia
Langham, M. R., Kays, D. W., Ledbetter, D. J., Frentzen, B. H., Sanford, L. L., & RICHARDS, D. S. (1996) · Clinics in Perinatology · doi:10.1016/s0095-5108(18)30201-x · Cited by 353
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10
Perçin, E. F., La, P., Jj, Y., Arıcı, M. K., Horsford, D. J., Rutherford, A. D., Bapat, B. V., Dw, C., Am, D., Vi, K., et al. (2000) · Nature Genetics · doi:10.1038/78071 · Cited by 288
HaploPainter: a tool for drawing pedigrees with complex haplotypes
Thiele, H., & Nürnberg, P. (2004) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bth488 · Cited by 276
Self-citationMorrison, D., FitzPatrick, D. R., Hanson, I. M., Williamson, K. A., van Heyningen, V., Fleck, B., Jones, I., Chalmers, J., & Campbell, H. (2002) · Journal of Medical Genetics · doi:10.1136/jmg.39.1.16 · Cited by 274
Self-citationIL-3 signaling and the role of Src kinases, JAKs and STATs: a covert liaison unveiled
Reddy, E. P., Korapati, A. L., Chaturvedi, P., & Rane, S. G. (2000) · Oncogene · doi:10.1038/sj.onc.1203594 · Cited by 224
Fog2 Is Required for Normal Diaphragm and Lung Development in Mice and Humans
Ackerman, K. G., Herron, B. J., Vargas, S. O., Huang, H., Tevosian, S. G., Kochilas, L. K., Rao, C., Pober, B. R., Babiuk, R. P., Epstein, J. A., et al. (2005) · PLoS Genetics · doi:10.1371/journal.pgen.0010010 · Cited by 216
Bouillet, P., Sapin, V., Chazaud, C., Messaddeq, N., Décimo, D., Dollé, P., & Chambon, P. (1997) · Mechanisms of Development · doi:10.1016/s0925-4773(97)00039-7 · Cited by 209
Etiology of Congenital Diaphragmatic Hernia: The Retinoid Hypothesis
Greer, J. J., Babiuk, R. P., & Thébaud, B. (2003) · Pediatric Research · doi:10.1203/01.pdr.0000062660.12769.e6 · Cited by 185
ALOHOMORA: a tool for linkage analysis using 10K SNP array data
Rüschendorf, F., & Nürnberg, P. (2005) · Computer applications in the biosciences · doi:10.1093/bioinformatics/bti264 · Cited by 178
Self-citationTRANSCRIPTION FACTORS AND CONGENITAL HEART DEFECTS
Clark, K. L., Yutzey, K. E., & Benson, D. W. (2005) · Annual Review of Physiology · doi:10.1146/annurev.physiol.68.040104.113828 · Cited by 155
Klaassens, M., van Dooren, M., Eussen, H. J., Douben, H., den Dekker, A. T., Lee, C., Donahoe, P. K., Galjaard, R. J. H., Goemaere, N. N. T., de Krijger, R. R., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429842 · Cited by 142
Slavotinek, A. M., Moshrefi, A., Davis, R., Leeth, E. A., Schaeffer, G. B., Burchard, E. G., Shaw, G. M., James, B., Ptáček, L. J., & Pennacchio, L. A. (2006) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201652 · Cited by 98
Self-citationCHX10 mutations cause non-syndromic microphthalmia/anophthalmia in Arab and Jewish kindreds
Bar‐Yosef, U., Abuelaish, I., Harel, T., Hendler, N., Ofir, R., & Birk, O. S. (2004) · Human Genetics · doi:10.1007/s00439-004-1154-2 · Cited by 85
Alveolar capillary dysplasia: a logical approach to a fatal disease
Michalsky, M. P., Arca, M. J., Groenman, F. A., Hammond, S., Tibboel, D., & Caniano, D. A. (2005) · Journal of Pediatric Surgery · doi:10.1016/j.jpedsurg.2005.03.067 · Cited by 78
Where to look for the genes related to diaphragmatic hernia?
Lurie, I. W. (2003) · PubMed · Cited by 68
Growth Factors in Lung Development
Kumar, V., Lakshminrusimha, S., Elabiad, M., Chess, P. R., & Ryan, R. M. (2005) · Advances in clinical chemistry · doi:10.1016/s0065-2423(05)40007-4 · Cited by 66
Congenital diaphragmatic hernia: A retinoid‐signaling pathway disruption during lung development?
Gallot, D., Marceau, G., Coste, K., Hadden, H., Robert‐Gnansia, E., Laurichesse‐Delmas, H., Déchelotte, P. J., Labbé, A., Dastugue, B., Lemery, D. J., et al. (2005) · Birth Defects Research Part A Clinical and Molecular Teratology · doi:10.1002/bdra.20151 · Cited by 59
Differential expression of retinoic acid-inducible (Stra) genes during mouse placentation
Sapin, V., Bouillet, P., Oulad‐Abdelghani, M., Dastugue, B., Chambon, P., & Dollé, P. (2000) · Mechanisms of Development · doi:10.1016/s0925-4773(00)00241-0 · Cited by 48
SMITH, S. A., Martin, K. E., Dodd, K., & Young, I. D. (1994) · Clinical Dysmorphology · doi:10.1097/00019605-199410000-00002 · Cited by 39
Zile, M. H. (2004) · Experimental Biology and Medicine · doi:10.1177/153537020422900703 · Cited by 34
A Population-based Case–control Study of Isolated Anophthalmia and Microphthalmia
Vogt, G., Horváth–Puhó, E., & Czeizel, A. E. (2005) · European Journal of Epidemiology · doi:10.1007/s10654-005-2382-z · Cited by 15
Another patient with pulmonary hypoplasia, microphthalmia and diaphragmatic hernia
Lee, S. Y. R., Shiu, Y. K., Ng, W. F., & Chow, C. B. (2005) · Clinical Dysmorphology · doi:10.1097/01.mcd.0000181604.78252.29 · Cited by 10
Further delineation of the acro-renal-ocular syndrome
(1996) · Pure Amsterdam UMC · doi:10.1002/(sici)1096-8628(19960329)62:3 · Cited by 1
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1 of the 38 references couldn’t be matched to a known paper.
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Retinoic acid signalling during development
Rhinn, M., & Dollé, P. (2012) · Development · doi:10.1242/dev.065938 · Cited by 849
Retinoic acid in development: Towards an integrated view
Niederreither, K., & Dollé, P. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2340 · Cited by 726
The Retinal Pigment Epithelium in Health and Disease
Sparrrow, J. R., Hicks, D., & Hamel, C. (2010) · Current Molecular Medicine · doi:10.2174/156652410793937813 · Cited by 655
Vitamin A metabolism: An update
D’Ambrosio, D. N., Clugston, R. D., & Blaner, W. S. (2011) · Nutrients · doi:10.3390/nu3010063 · Cited by 562
Stankiewicz, P., Sen, P., Bhatt, S., Storer, M. A., Xia, Z., Bejjani, B. A., Ou, Z., Wiszniewska, J., Driscoll, D. J., Bolivar, J., et al. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2009.05.005 · Cited by 534
Metadata
- Authors
- Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., Brasch, F., Schirmer-Zimmermann, H., Tolmie, J. L., Chitayat, D., Houge, G., Fernández-Martínez, L., Keating, S., Mortier, G., Hennekam, R. C. M., von der Wense, A., Slavotinek, A., Meinecke, P., Bitoun, P., Becker, C., Nürnberg, P., Reis, A., & Rauch, A.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Cnopf´sche Kinderklinik (DE)
- MRC Human Genetics Unit (GB)
- University of Cologne (DE)
- Klinikum Bremen-Mitte (DE)
- Haukeland University Hospital (NO)
- Mount Sinai Hospital (CA)
- Ghent University Hospital (BE)
- Great Ormond Street Hospital (GB)
- University of California, San Francisco (US)
- Altonaer Kinderkrankenhaus (DE)
- Hôpital Jean-Verdier (FR)
- Corresponding author
- Rauch, Anita
- ORCID
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2007-03
- Volume
- 80
- Issue
- 3
- Pages
- 550-560
- ISSN
- 0002-9297 (ISSN-L)
- PMC
- PMC1821097
- OpenAlex
- W2017461303
- Cited by
- 361
- References
- 38
- Citations by year
- 2026: 4 · 2025: 15 · 2024: 12 · 2023: 9 · 2022: 16 · 2021: 27 · 2020: 20 · 2019: 22 · 2018: 11 · 2017: 13 · 2016: 19 · 2015: 19 · 2014: 26 · 2013: 23 · 2012: 20
- FWCI
- 22.06
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- The American Journal of Human Genetics (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- Ghent University Academic Bibliography (Ghent University) (submittedVersion)
- Digital Access to Libraries (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Pure Amsterdam UMC (submittedVersion)
- Edinburgh Research Explorer (University of Edinburgh) (submittedVersion, other-oa)
- Funders
- Deutsche Forschungsgemeinschaft (SFB 539)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Developmental Biology › Congenital limb and hand anomalies
- Health Sciences › Medicine › Ophthalmology › Ocular Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- STRA6, anophthalmia, congenital heart disease, diaphragmatic hernia, alveolar capillary dysplasia, pulmonary hypoplasia, intellectual disability, consanguinity, homozygous mutation, missense mutations, nonsense mutation, chromosome 15, retinoic acid signaling, consanguineous family
- MeSH terms
- Abnormalities, Multiple, Adolescent, Adult, Amino Acid Sequence, Anophthalmos, Capillaries, Consanguinity, Female, Heart Defects, Congenital, Hernia, Diaphragmatic, Humans, Infant, Infant, Newborn, Lung, Male, Membrane Proteins, Intellectual Disability, Molecular Sequence Data, Mutation, Pedigree, Phosphorylation, Pulmonary Alveoli, Receptors, Cell Surface, Sequence Homology, Amino Acid
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