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Cited by 362Congenital limb and hand anomaliesOcular Disorders and TreatmentsGenomics and Rare Diseases

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

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Pasutto, Francesca, Sticht, Heinrich, Hammersen, Gerhard, Gillessen-Kaesbach, Gabriele, FitzPatrick, David R., Nürnberg, Gudrun, Brasch, Frank, Schirmer-Zimmermann, Heidemarie, Tolmie, John L., Chitayat, David, Houge, Gunnar, Fernández-Martínez, Lorena, Keating, Sarah, Mortier, Geert, Hennekam, Raoul C.M., von der Wense, Axel, Slavotinek, Anne, Meinecke, Peter, Bitoun, Pierre, Becker, Christian, Nürnberg, Peter, Reis, André, Rauch, Anita·2007·The American Journal of Human Genetics
DOI 10.1086/512203PMC PMC1821097
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Abstract

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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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)
DOI
10.1086/512203
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
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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