Novel Mutations in the TULP1 Gene Causing Autosomal Recessive Retinitis Pigmentosa

• Published in: Investigative ophthalmology & visual science Vol. 41; no. 3; pp. 656 - 659
• Main Authors: Paloma, Eva, Hjelmqvist, Lars, Bayes, Monica, Garcia-Sandoval, Blanca, Ayuso, Carmen, Balcells, Susana, Gonzalez-Duarte, Roser
• Format: Journal Article
• Language: English
• Published: Rockville, MD ARVO 01.03.2000; Association for Research in Vision and Ophtalmology
• Subjects: Amino Acid Sequence; Base Sequence; Biological and medical sciences; Exons; Eye Proteins - genetics; Female; Gene Deletion; Humans; Male; Medical sciences; Molecular Sequence Data; Ophthalmology; Pedigree; Point Mutation; Polymerase Chain Reaction; Polymorphism, Single-Stranded Conformational; Retinitis Pigmentosa - genetics; Retinopathies; Sequence Analysis, DNA; Human; Eye disease; Retinopathy; Gene; Family study; Pathogenesis; Retinitis pigmentosa; Recessive character; Mutation; Genetic disease
• ISSN: 0146-0404; 1552-5783

To assess the contribution of TULP1 to autosomal recessive retinitis pigmentosa (arRP). 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. In one of the seven families two allelic mutations, IVS4-2delAGA and c.937delC, were found in exons 5 and 10, respectively. 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.