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Mutations in the gene encoding the alpha-subunit of rod phosphodiesterase in consanguineous Pakistani families.
S Amer Riazuddin; Fareeha Zulfiqar; Qingjiong Zhang; Wenliang Yao; Shouling Li; Xiaodong Jiao; Amber Shahzadi; Muhammad Amer; Muhammad Iqbal; Tayyab Hussnain; et al. (Profiled Authors: Sheikh Amer Riazuddin; Muhammad Amer)
Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892-1860, USA.
Molecular vision 2006;12():1283-91.
PURPOSE: To localize and identify the gene and mutations causing autosomal recessive retinitis pigmentosa (RP) in consanguineous Pakistani families. METHODS: Families were ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted. A genome-wide scan was performed using 382 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. RESULTS: A genome-wide scan of 50 families gave a lod score of 7.4172 with D5S2015 using HOMOG1. RP in all 4 linked families mapped to a 13.85 cM (14.87 Mb) region on chromosome 5q31-33 flanked by D5S2090 and D5S422. This region harbors the PDE6A gene, which is known to cause autosomal recessive RP. Sequencing of PDE6A showed a homozygous single base pair change; c.889C->T, single base pair insertion; c.2218-2219insT, and single base pair substitution in the splice acceptor site; IVS10-2A->G in each of three families. In the fourth family linked to this region, no disease-causing mutation was identified in the PDE6A gene. CONCLUSIONS: These results provide strong evidence that mutations in PDE6A result in recessive RP in three consanguineous Pakistani families. Although a fourth family was linked to markers in the 5q31-33 interval, no mutation was identified in PDE6A.
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Shahbaz Ali; S Amer Riazuddin; Amber Shahzadi; Idrees A Nasir; Shaheen N Khan; Tayyab Husnain; Javed Akram; Paul A Sieving; J Fielding Hejtmancik; Sheikh RiazuddinMolecular vision 2011;17():1373-80.
S Amer Riazuddin; Fareeha Zulfiqar; Qingjiong Zhang; Yuri V Sergeev; Zaheeruddin A Qazi; Tayyab Husnain; Rafael Caruso; Sheikh Riazuddin; Paul A Sieving; J Fielding HejtmancikInvestigative ophthalmology & visual science 2005;46(7):2264-70.
Tariq Butt; Wenliang Yao; Haiba Kaul; Jiao Xiaodong; Libe Gradstein; Yan Zhang; Tayyab Husnain; Sheikh Riazuddin; J Fielding Hejtmancik; S Amer RiazuddinMolecular vision 2007;13():1635-40.
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