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

doi:10.1086/512203

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

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

American journal of human genetics - 1 Mar 2007

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

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Anophthalmos

Share to Capillaries

Share to Consanguinity

Share to Heart Defects, Congenital

Share to Hernia, Diaphragmatic

Share to Lung

Share to Pulmonary Alveoli

Source

Open in PubMed Open full text

Identifiers

PMID: 17273977
DOI: 10.1086/512203
PMCID: PMC1821097

Genes

STRA6

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

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 17273977Read ↗

Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia.Semantic proximity Read ↗

Matthew-Wood syndrome is caused by truncating mutations in the retinol-binding protein receptor gene STRA6.Semantic proximity Read ↗

Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?Semantic proximity Read ↗

A novel mutation in two Hmong families broadens the range of STRA6-related malformations to include contractures and camptodactyly.Semantic proximity Read ↗

An essential ligand-binding domain in the membrane receptor for retinol-binding protein revealed by large-scale mutagenesis and a human polymorphism.Semantic proximity Read ↗

Identification of STRA6 and SKI sequence variants in patients with anophthalmia/microphthalmia.Semantic proximity Read ↗

Expanding the phenotype of STRA6-related disorder to include left ventricular non-compaction.Semantic proximity Read ↗

First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype.Semantic proximity Read ↗

Two novel STRA6 mutations in a patient with anophthalmia and diaphragmatic eventration.Semantic proximity Read ↗

Recessive and dominant mutations in retinoic acid receptor beta in cases with microphthalmia and diaphragmatic hernia.Semantic proximity Read ↗

Mutation analysis of the STRA6 gene in isolated and non-isolated anophthalmia/microphthalmia.Semantic proximity Read ↗

PAX6 mutations reviewed.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.