Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.

Abstract

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.

• Authors: 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
• Journal: Human mutation (Hum Mutat) Vol. 30 Issue 5 Pg. E673-81 (May 2009) ISSN: 1098-1004 [Electronic] United States
• PMID: 19309693 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright 2009 Wiley-Liss, Inc.

Chemical References

• Membrane Proteins
• STRA6 protein, human

Topics

• Abnormalities, Multiple (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