STRA6 gene

Overview

Gene (OMIM No.)	STRA6 (#610745)
Function of gene/protein	Protein: signalling receptor and transporter of retinol Retinoids (Vitamin A derivatives) is regulate eye development through enhancing or suppressing developmental gene expression STRA6 is a membrane protein that is involved in retinal metabolism by mediating uptake in cells
Clinical phenotype (OMIM phenotype no.)	Microphthalmia, isolated, with coloboma 8 (#601186) Microphthalmia, syndromic 9 (#601186) Also known as Spear syndrome or Matthew-Wood syndrome/Pulmonary, Diaphragmatic, Anophthalmia and Cardiac (PDAC) syndrome
Inheritance	Autosomal recessive
Ocular features	Microphthalmia, anophthalmia, coloboma (MAC) spectrum (usually bilateral)
Systemic features	Microphtalmia, syndromic 9: Pulmonary (lung agenesis, hypoplasia or incomplete lobation) Diaphragmatic hernia or eventration Cardiac defects Usually results in death within the first 2 years of life but milder phenotypes have been reported
Key investigations	B-scan USS to measure axial length to document microphthalmia Electrophysiology MRI brain and orbit Systemic assessment with a paediatrician and other relevant specialists
Molecular diagnosis	Next generation sequencing Targeted gene panels (MAC) Whole genome sequencing
Management	Ocular Management of MAC Systemic Multidisciplinary approach
Therapies under research	None at present
Further information	OMIM

Isken A, Golczak M, Oberhauser V, et al. RBP4 disrupts vitamin A uptake homeostasis in a STRA6-deficient animal model for Matthew-Wood syndrome. Cell Metab. 2008;7(3):258‐268
Marcadier JL, Mears AJ, Woods EA, et al. A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly. Am J Med Genet A. 2016;170A(1):11‐18
Sundaram M, Sivaprasadarao A, DeSousa MM, Findlay JB. The transfer of retinol from serum retinol-binding protein to cellular retinol-binding protein is mediated by a membrane receptor. J Biol Chem. 1998;273(6):3336‐3342
Casey J, Kawaguchi R, Morrissey M, et al. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat. 2011;32(12):1417‐1426
Gerth-Kahlert C, Williamson K, Ansari M, et al. Clinical and mutation analysis of 51 probands with anophthalmia and/or severe microphthalmia from a single center. Mol Genet Genomic Med. 2013;1(1):15‐31

Updated on November 30, 2020