Synopsis
anophthalmia
distinct eyebrows
cardiac malformations
diaphragmatic hernia
alveolar capillary dysplasia
lung hypoplasia
mental retardation
Etiology
germline mutations in STRA6 (17273977)
- STRA6 encodes an integral cell-membrane protein that favors RA uptake from soluble retinol-binding protein; its transcription is directly regulated by RA levels. (17503335)
- STRA6 is 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. (17273977)
References
Golzio C, Martinovic-Bouriel J, Thomas S, Mougou-Zrelli S, Grattagliano-Bessieres B, Bonniere M, Delahaye S, Munnich A, Encha-Razavi F, Lyonnet S, Vekemans M, Attie-Bitach T, Etchevers HC. Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6. Am J Hum Genet. 2007 Jun;80(6):1179-87. PMID: 17503335
Pasutto F, Sticht H, Hammersen G, Gillessen-Kaesbach G, Fitzpatrick DR, Nurnberg G, Brasch F, Schirmer-Zimmermann H, Tolmie JL, Chitayat D, Houge G, Fernandez-Martinez L, Keating S, Mortier G, Hennekam RC, von der Wense A, Slavotinek A, Meinecke P, Bitoun P, Becker C, Nurnberg P, Reis A, Rauch A. Mutations in STRA6 Cause a Broad Spectrum of Malformations Including Anophthalmia, Congenital Heart Defects, Diaphragmatic Hernia, Alveolar Capillary Dysplasia, Lung Hypoplasia, and Mental Retardation. Am J Hum Genet. 2007 Mar;80(3):550-60. PMID: 17273977
Bouillet, P.; Sapin, V.; Chazaud, C.; Messaddeq, N.; Decimo, D.; Dolle, P.; Chambon, P. : Developmental expression pattern of Stra6, a retinoic acid-responsive gene encoding a new type of membrane protein. Mech. Dev. 63: 173-186, 1997. PubMed ID : 9203140