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N. LI, M. Han, X. Jiao, I. MacDonald, K. Zhao, J. Hejtmancik; ASCC3L1 Gene Mutation in a Chinese Family With Autosomal Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2303.
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© ARVO (1962-2015); The Authors (2016-present)
To localize and identify the pathogenic gene in a Chinese Family with autosomal dominant retinitis pigmentosa.
A Chinese family with adRP was ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted after informed consent. A linkage scan of genomic regions containing known candidate genes was performed using 54 polymorphic microsatellite markers followed by fine mapping on genomic DNA from affected and unaffected family members and lod scores were calculated. Candidate genes were sequenced directly and mutations analyzed.
A maximum lod score of 3.5 at θ = 0 was obtained with D2S2333 and 3.46 at θ = 0 with D2S2216. This region harbors the ASCC3L1 gene. Sequencing of ASCC3L1 shows a heterozygous single base pair change; c.3269GT, single base pair change predicted to result in a R1090L amino acid change.
These results provide strong evidence that mutations in ASCC3L1 result in autosomal dominant retinitis pigmentosa in this Chinese family.
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