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Ningdong Li, Han Mei, Ian M. MacDonald, XiaoDong Jiao, J. Fielding Hejtmancik; Mutations in ASCC3L1 on 2q11.2 Are Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family. Invest. Ophthalmol. Vis. Sci. 2010;51(2):1036-1043. doi: 10.1167/iovs.09-3725.
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To localize and identify the gene and mutations causing autosomal dominant retinitis pigmentosa in a Chinese Family.
Families were ascertained and patients underwent complete ophthalmic examinations. Blood samples were collected and DNA was extracted. A linkage scan of genomic regions containing known candidate genes was performed by using 34 polymorphic microsatellite markers on genomic DNA from affected and unaffected family members, and lod scores were calculated. Candidate genes were sequenced and mutations analyzed.
A genome-wide scan yielded a lod score of 3.5 at θ = 0 for D2S2333 and 3.46 at θ = 0 for D2S2216. This region harbors the ASCC3L1 gene. Sequencing of ASCC3L1 in an affected family member showed a heterozygous single-base-pair change; c.3269G→T, predicted to result in an Arg1090Leu amino acid change.
The results provide strong evidence that mutations in ASCC3L1 have resulted in autosomal dominant retinitis pigmentosa in this Chinese family.
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