RGD Reference Report - Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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

Authors: Pasutto, Francesca  Sticht, Heinrich  Hammersen, Gerhard  Gillessen-Kaesbach, Gabriele  Fitzpatrick, David R  Nürnberg, Gudrun  Brasch, Frank  Schirmer-Zimmermann, Heidemarie  Tolmie, John L  Chitayat, David  Houge, Gunnar  Fernández-Martínez, Lorena  Keating, Sarah  Mortier, Geert  Hennekam, Raoul C M  von der Wense, Axel  Slavotinek, Anne  Meinecke, Peter  Bitoun, Pierre  Becker, Christian  Nürnberg, Peter  Reis, André  Rauch, Anita 
Citation: Pasutto F, etal., Am J Hum Genet. 2007 Mar;80(3):550-60. doi: 10.1086/512203. Epub 2007 Jan 29.
RGD ID: 155631287
Pubmed: PMID:17273977   (View Abstract at PubMed)
PMCID: PMC1821097   (View Article at PubMed Central)
DOI: DOI:10.1086/512203   (Journal Full-text)

We observed two unrelated consanguineous families with malformation syndromes sharing anophthalmia and distinct eyebrows as common signs, but differing for alveolar capillary dysplasia or complex congenital heart defect in one and diaphragmatic hernia in the other family. Homozygosity mapping revealed linkage to a common locus on chromosome 15, and pathogenic homozygous mutations were identified in STRA6, 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. Subsequently, homozygous STRA6 mutations were also demonstrated in 3 of 13 patients chosen on the basis of significant phenotypic overlap to the original cases. While a homozygous deletion generating a premature stop codon (p.G50AfsX22) led to absence of the immunoreactive protein in patient's fibroblast culture, structural analysis of three missense mutations (P90L, P293L, and T321P) suggested significant effects on the geometry of the loops connecting the transmembrane helices of STRA6. Two further variations in the C-terminus (T644M and R655C) alter specific functional sites, an SH2-binding motif and a phosphorylation site, respectively. STRA6 mutations thus define a pleiotropic malformation syndrome representing the first human phenotype associated with mutations in a gene from the "STRA" group.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STRA6HumanAnophthalmia  IAGP DNA:frameshift mutation and missense mutations:CDS:multiple (human)RGD 
Stra6RatAnophthalmia  ISOSTRA6 (Homo sapiens)DNA:frameshift mutation and missense mutations:CDS:multiple (human)RGD 
Stra6MouseAnophthalmia  ISOSTRA6 (Homo sapiens)DNA:frameshift mutation and missense mutations:CDS:multiple (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
STRA6HumanAnophthalmia  IAGP DNA:frameshift mutation and missense mutations:CDS:multipleRGD 
Objects Annotated

Genes (Rattus norvegicus)
Stra6  (signaling receptor and transporter of retinol STRA6)

Genes (Mus musculus)
Stra6  (stimulated by retinoic acid gene 6)

Genes (Homo sapiens)
STRA6  (signaling receptor and transporter of retinol STRA6)


Additional Information