A novel mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.

ABSTRACT:

Aim

To identify potential mutations and elucidate the clinical findings of male patients and female carriers of X-linked retinitis pigmentosa (XLRP) in a Chinese family.

Methods

A four generation pedigree was collected that consisted of 20 individuals. Genomic DNA was extracted from peripheral blood, and then the target fragments were amplified by PCR and sequenced directly. In addition, all affected patients and female carriers underwent comprehensively ophthalmic evaluation.

Results

A novel mutation c.2865G>A p.W955X in RPGR gene was identified of this family, including four affected individuals and eight carriers. All male patients, aging from 7 to 31y, tended to have more various, even potentially deleterious clinical features of RP. At the same time, indiv

SUBMITTER: Sun HH 

PROVIDER: S-EPMC9453402 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature