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Ningdong Li; Analysis of RP2 And RPGR Mutations in Five X-Linked Chinese Families With Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2017;58(8):3238.
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To identify the gene mutations in Five Chinese families with X-linked retinitis pigmentosa.
Families were ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted. An X chromosome wide linkage scan was performed for two families. Candidate genes were sequenced by direct PCR and Sanger sequencing, and mutations analyzed. Self-ligation of restriction endonuclease-digested DNA fragments with long-distance inverse PCR was performed for detecting the large gene deletion.
A large deletion of approximately 16.529kb in length, including exons 4 and 5 of RP2 was detected in one family with X-linked RP. Four frameshift mutations were detected in the RPGR gene in four families, including a novel splicing mutation of c.1059+1G>T in intron 9, a novel insertion mutation (c.2002dupC), a novel small deletion (c.2236_2237del CT), and a previously reported mutation c.2899delG in exon ORF 15.
We identified three novel and two known mutations in RP2 and RPGR in five Han Chinese families with X-linked retinitis pigmentosa. These mutations expand the mutation spectrum of RP2 and RPGR, and will be helpful for further study molecular pathogenesis of RP.
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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