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Novel mutations in the TULP1 gene causing autosomal recessive retinitis pigmentosa
E Paloma1, L Hjelmqvist, M Bayés
1Departamento de Genètica, Facultat de Biologia, Universitat de Barcelona, Spain.
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.