Skip to Main content Skip to Navigation
Journal articles

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.
Document type :
Journal articles
Complete list of metadatas

https://www.hal.inserm.fr/inserm-00372285
Contributor : Hervé de Villemeur <>
Submitted on : Tuesday, March 31, 2009 - 6:30:26 PM
Last modification on : Wednesday, October 14, 2020 - 3:55:46 AM

Links full text

Identifiers

Citation

Nicolas Chassaing, Christelle Golzio, Sylvie Odent, Léopoldine Lequeux, Adeline Vigouroux, et al.. Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.. Human Mutation, Wiley, 2009, 30 (5), pp.E673-81. ⟨10.1002/humu.21023⟩. ⟨inserm-00372285⟩

Share

Metrics

Record views

635