STRA6 stimulated by retinoic acid 6

Gene info

Synonyms

FLJ12541

Previous symbol

None

External ID

HGNC: 30650
Entrez Gene: 64220
Ensembl: ENSG00000137868
UCSC: uc059lgy.1
OMIM: 610745
UniProtKB: Q9BX79

Disease info

CHD Phenotype

  • Atrial septal defect
  • Coarctation of the aorta
  • Hypoplastic left heart syndrome
  • Hypoplastic left ventricle
  • Persistent ductus arteriosus
  • Tetralogy of fallot
  • Ventricular septal defect
  • Pulmonary trunk and pulmonary artery absence
  • Dilated ductus arteriosus
  • Right-sided aortic arch
  • Dextroposed aorta

Extra Cardiac Phenotype

Short stature , Intrauterine growth retardation , Anophthalmia, Broad, flared eyebrows, Hypoplasia or absence of optic nerve, Pulmonary hypoplasia, Pulmonary agenesis, Respiratory insufficiency, Alveolar capillary dysplasia, Unilobular lung , Diaphragmatic hernia, Diaphragmatic eventration , Hypoplastic spleen , Multilobulated spleen , Inguinal hernia, Cryptorchidism , Hypoplastic, bicornuate uterus , Streak ovaries , Horseshoe kidney, Hydronephrosis, Pelvic kidney , Hypoplastic kidney , Malrotation of kidney , Mental retardation, Hypotonia

Incomplete penetrance

No

Variable expressivity

Yes

Animal model

Mouse study

No CHD in null mice

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for STRA6: BED file

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Selected References

  1. Pasutto, F., Sticht, H., Hammersen, G., Gillessen-Kaesbach, G., FitzPatrick, D. R., Nürnberg, G., … Rauch, A. (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. The American Journal of Human Genetics, 80(3), 550–560. DOI:10.1086/512203 PMID:17273977
  2. Golzio, C., Martinovic-Bouriel, J., Thomas, S., Mougou-Zrelli, S., Grattagliano-Bessières, B., Bonnière, M., … Etchevers, H. C. (2007). Matthew-Wood Syndrome Is Caused by Truncating Mutations in the Retinol-Binding Protein Receptor Gene STRA6. The American Journal of Human Genetics, 80(6), 1179–1187. DOI:10.1086/518177 PMID:17503335
  3. Segel, R., Levy-Lahad, E., Pasutto, F., Picard, E., Rauch, A., Alterescu, G., & Schimmel, M. S. (2009). Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due toSTRA6mutations-What are the minimal criteria? American Journal of Medical Genetics Part A, 149A(11), 2457–2463. DOI:10.1002/ajmg.a.33038 PMID:19839040
  4. Chassaing, N., Ragge, N., Kariminejad, A., Buffet, A., Ghaderi-Sohi, S., Martinovic, J., & Calvas, P. (2013). Mutation analysis of theSTRA6gene in isolated and non-isolated anophthalmia/microphthalmia. Clinical Genetics, 83(3), 244–250. DOI:10.1111/j.1399-0004.2012.01904.x PMID:22686418