| Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. | |
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MedLine Citation:
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PMID: 19309693 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Matthew-Wood, Spear, PDAC or MCOPS9 syndrome are alternative names used to refer to combinations of microphthalmia/anophthalmia, malformative cardiac defects, pulmonary dysgenesis, and diaphragmatic hernia. Recently, mutations in STRA6, encoding a membrane receptor for vitamin A-bearing plasma retinol binding protein, have been identified in such patients. We performed STRA6 molecular analysis in three fetuses and one child diagnosed with Matthew-Wood syndrome and in three siblings where two adult living brothers are affected with combinations of clinical anophthalmia, tetralogy of Fallot, and mental retardation. Among these patients, six novel mutations were identified, bringing the current total of known STRA6 mutations to seventeen. We extensively reviewed clinical data pertaining to all twenty-one reported patients with STRA6 mutations (the seven of this report and fourteen described elsewhere) and discuss additional features that may be part of the syndrome. The clinical spectrum associated with STRA6 deficiency is even more variable than initially described. |
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Authors:
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Nicolas Chassaing; Christelle Golzio; Sylvie Odent; Léopoldine Lequeux; Adeline Vigouroux; Jelena Martinovic-Bouriel; Francesco Danilo Tiziano; Lucia Masini; Francesca Piro; Giovanna Maragliano; Anne-Lise Delezoide; Tania Attié-Bitach; Sylvie Manouvrier-Hanu; Heather C Etchevers; Patrick Calvas |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Human mutation Volume: 30 ISSN: 1098-1004 ISO Abbreviation: Hum. Mutat. Publication Date: 2009 May |
Date Detail:
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Created Date: 2009-05-04 Completed Date: 2009-07-30 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9215429 Medline TA: Hum Mutat Country: United States |
Other Details:
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Languages: eng Pagination: E673-81 Citation Subset: IM |
Copyright Information:
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Copyright 2009 Wiley-Liss, Inc. |
Affiliation:
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INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, 31300 France. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics* Adult Amino Acid Sequence Anophthalmos / complications*, genetics* Fatal Outcome Female Humans Infant Male Membrane Proteins / chemistry, genetics* Molecular Sequence Data Mutation / genetics* Phenotype Sequence Alignment Syndrome |
| Chemical | |
Reg. No./Substance:
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0/Membrane Proteins; 0/STRA6 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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