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Article

Compound heterozygosity of two novel truncation mutations in RP1 causing autosomal recessive retinitis pigmentosa.

Investigative ophthalmology & visual science - 1 Apr 2010

Chen Li Jia, Lai Timothy Y Y, Tam Pancy O S, Chiang Sylvia W Y, Zhang Xin, Lam Shi, Lai Ricky Y K, Lam Dennis S C, Pang Chi Pui

Abstract excerpt

Purpose. To evaluate the phenotypic effects of two novel frameshift mutations in the RP1 gene in a Chinese pedigree of autosomal recessive retinitis pigmentosa (ARRP). Methods. Family members of a proband with ARRP were screened for RP1, RHO, NR2E3, and NRL mutations by direct sequencing. Detected RP1 mutations were genotyped in 225 control subjects. Since one family member with the RP1 deletion mutation in exon...

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Source

Identifiers

PMID: 19933189
DOI: 10.1167/iovs.09-4437

Genes

CFH
HTRA1
NRL
RHO

Variants

Provenance

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