Condition: ANOPHTHALMIA AND PULMONARY HYPOPLASIA


rs144691445 in STRA6 gene and ANOPHTHALMIA AND PULMONARY HYPOPLASIA PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

PMID 21901792 2011 The STRA6 p.G304K mutation was subsequently detected in additional MCOPCB patients, including one individual with Matthew-Wood syndrome (MWS; MCOPS9).

PMID 17273977 2007 Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.

PMID 21368206 2011 Signaling by vitamin A and retinol-binding protein regulates gene expression to inhibit insulin responses.

PMID 17503335 2007 Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.