Sheikh Amer Riazuddin

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Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Muhammad Iqbal; Muhammad Asif Naeem; S Amer Riazuddin; Shahbaz Ali; Tahir Farooq; Zaheeruddin A Qazi; Shaheen N Khan; Tayyab Husnain; Saima Riazuddin; Paul A Sieving; et al. (Profiled Author: Sheikh Amer Riazuddin)

National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan.
Archives of ophthalmology 2011;129(10):1351-7.

OBJECTIVE: To identify pathogenic mutations responsible for autosomal recessive retinitis pigmentosa in 5 consanguineous Pakistani families. METHODS: Affected individuals in the families underwent a detailed ophthalmological examination that consisted of fundus photography and electroretinography. Blood samples were collected from all participating family members, and genomic DNA was extracted. A genome-wide linkage scan was performed, followed by exclusion analyses among our cohort of nuclear consanguineous families with microsatellite markers spanning the TULP1 locus on chromosome 6p. Two-point logarithm of odds scores were calculated, and all coding exons of TULP1 were sequenced bidirectionally. RESULTS: The results of ophthalmological examinations among affected individuals in these 5 families were suggestive of retinitis pigmentosa. The genome-wide linkage scan localized the disease interval to chromosome 6p, harboring TULP1 in 1 of 5 families, and sequential analyses identified a single base pair substitution in TULP1 that results in threonine to alanine substitution (p.T380A). Subsequently, we investigated our entire cohort of families with autosomal recessive retinitis pigmentosa and identified 4 additional families with linkage to chromosome 6p, all of them harboring a single base pair substitution in TULP1 that results in lysine to arginine substitution (p.K489R). Results of single-nucleotide polymorphism haplotype analyses were suggestive of a common founder in these 4 families. CONCLUSION: Pathogenic mutations in TULP1 are responsible for the autosomal recessive retinitis pigmentosa phenotype in these consanguineous Pakistani families, with a single ancestral mutation in TULP1 causing the disease phenotype in 4 of 5 families. CLINICAL RELEVANCE: Clinical and molecular characterization of pathogenic mutations in TULP1 will increase our understanding of retinitis pigmentosa at a molecular level.

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