title: 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.affiliation: INSERM, U563, Centre de Physiopathologie de Toulouse Purpan, Toulouse, 31300 France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.forename: Christelle
authors.initials: C
authors.lastname: Golzio
authors.forename: Sylvie
authors.initials: S
authors.lastname: Odent
authors.forename: Léopoldine
authors.initials: L
authors.lastname: Lequeux
authors.forename: Adeline
authors.initials: A
authors.lastname: Vigouroux
authors.forename: Jelena
authors.initials: J
authors.lastname: Martinovic-Bouriel
authors.forename: Francesco Danilo
authors.initials: FD
authors.lastname: Tiziano
authors.forename: Lucia
authors.initials: L
authors.lastname: Masini
authors.forename: Francesca
authors.initials: F
authors.lastname: Piro
authors.forename: Giovanna
authors.initials: G
authors.lastname: Maragliano
authors.forename: Anne-Lise
authors.initials: AL
authors.lastname: Delezoide
authors.forename: Tania
authors.initials: T
authors.lastname: Attié-Bitach
authors.forename: Sylvie
authors.initials: S
authors.lastname: Manouvrier-Hanu
authors.forename: Heather C
authors.initials: HC
authors.lastname: Etchevers
authors.forename: Patrick
authors.initials: P
authors.lastname: Calvas
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D000595:Amino Acid Sequence; D000853:Anophthalmos / Q000150:complications* / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D016415:Sequence Alignment; D013577:Syndrome
chemical_list: D008565:Membrane Proteins; C519685:STRA6 protein, human