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Article

Genetic screening of leber congenital amaurosis in a large consanguineous Iranian family.

Ophthalmic genetics - 1 Dec 2007

Rezaie Tayebeh, Karimi-Nejad Mohammad-Hassan, Meshkat Mohammad-Reza, Sohbati Saeed, Karimi-Nejad Roxana, Najmabadi Hossein, Sarfarazi Mansoor

Abstract excerpt

The molecular defect of one large consanguineous Iranian kindred with Leber Congenital Amaurosis (LCA) is presented. The phenotype mapped to 17p13.1 (LCA1) and excluded from five other LCA loci. Sequence analysis of the GUCY2D gene identified a novel homozygous missense mutation (I816S) that segregated with the inherited disease-haplotype in six affected, eight parents, and two normal gene carriers. This mutation...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genetic Carrier Screening

Share to Guanylate Cyclase

Share to Mutation, Missense

Share to Optic Atrophy, Hereditary, Leber

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Source

Identifiers

PMID: 18161624
DOI: 10.1080/13816810701663550

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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