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Eva Paloma, Lars Hjelmqvist, Mònica Bayés, Blanca García–Sandoval, Carmen Ayuso, Susana Balcells, Roser Gonzàlez–Duarte; Novel Mutations in the TULP1 Gene Causing Autosomal Recessive Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2000;41(3):656-659.
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© ARVO (1962-2015); The Authors (2016-present)
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.
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