A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3]

Hatem El-Shanti; Mahmoud Al-Salem; Mahmoud El-Najjar; Kamel Ajlouni; John Beck; Val C Sheffield; Edwin M Stone

doi:10.1136/jmg.36.11.862

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A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3]

Letter/Communication

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A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3]

Hatem El-Shanti, Mahmoud Al-Salem, Mahmoud El-Najjar, Kamel Ajlouni, John Beck, Val C Sheffield and Edwin M Stone

Journal of Medical Genetics, Vol.36(11), pp.862-865

1999

DOI: 10.1136/jmg.36.11.862

PMID: 10636733

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https://www.ncbi.nlm.nih.gov/pmc/articles/1734263View

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Abstract

Editor—Leber congenital amaurosis (LCA) (MIM 204000) has the earliest onset and is the most severe form of retinal dystrophy.1-3 It is an autosomal recessive condition that is recognised within the first few months of life because of impaired vision and an extinguished electroretinogram.4 Nystagmus, specifically pendular, and eye poking are frequently observed early on,5 while hypermetropia and keratoconus may develop later during the course of the disease.6 7 Genetic heterogeneity was confirmed when the first gene of LCA was mapped to chromosome 17p13.1 ( LCA1 ) by homozygosity mapping in consanguineous Arab families.8 9 Four different mutations in the retinal specific guanylate cyclase gene ( RETGC ) were found in four unrelated probands and thus LCA1 was assumed to result from homozygous alterations in this gene.10 We report here a nonsense mutation in the RETGC gene, which in the homozygous state is responsible for LCA in a large inbred tribe from Jordan. We had already identified a large, highly inbred family from the Jordan valley consisting of about 2000 living subjects, in which affected members have LCA.11 A 31 member subset of this family was investigated (fig 1). All members were examined by an ophthalmologist and a paediatrician. Four patients had ERG performed (Nos 3, 9, 13, 14). Blood samples were collected from 28 family members …

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Title: Subtitle: A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan [3]
Creators: Hatem El-Shanti
Mahmoud Al-Salem
Mahmoud El-Najjar
Kamel Ajlouni
John Beck
Val C Sheffield
Edwin M Stone
Resource Type: Letter/Communication
Publication Details: Journal of Medical Genetics, Vol.36(11), pp.862-865
DOI: 10.1136/jmg.36.11.862
PMID: 10636733
NLM abbreviation: J Med Genet
ISSN: 0022-2593
eISSN: 1468-6244
Language: English
Date published: 1999
Academic Unit: Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
Record Identifier: 9983979960302771

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