STRA6 gene

Overview

Gene (OMIM No.)
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
Systemic featuresMicrophtalmia, 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 diagnosisNext generation sequencing
  • Targeted gene panels (MAC)
  • Whole genome sequencing
ManagementOcularSystemic
  • Multidisciplinary approach
Therapies under research
  • None at present
Further information

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References

  1.  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
  2.  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
  3.  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
  4.  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
  5.  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

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Updated on November 30, 2020
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