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Invest Ophthalmol Vis Sci. 2000 Mar;41(3):656-9.

Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa.

Author information

1
Departamento de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain.

Abstract

PURPOSE:

To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP).

METHODS:

Fifteen exons of the gene were screened by single-strand conformation polymorphism analysis of 7 (of 49) arRP pedigrees showing cosegregation with TULP1 locus markers.

RESULTS:

In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, respectively.

CONCLUSIONS:

Two novel mutations in TULP1 were found to be associated with arRP. That they both compromise the gene product supports their pathogenicity. This gene was present in no more than 2% of a panel of 49 Spanish families affected by arRP.

PMID:
10711677
[Indexed for MEDLINE]

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