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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]
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Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration
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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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