Novel splice receptor-site mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa.

ABSTRACT:

Rationale

Retinitis pigmentosa (RP) is a group of clinically and genetically heterogeneous diseases; X-linked retinitis pigmentosa (XLRP) is the most serious type. Mutations in RP GTPase regulator (RPGR) account for over 70% of patients with XLRP.

Patient concerns

We report a Chinese family with RP, 5 males presented with night blindness and decreased vision, and 8 females showed different severities of myopia.

Diagnoses

Targeted exome capture sequencing was performed in 2 affected males, which revealed a novel variant (NM_000328.2, c.470-1G>A) in the RPGR gene. The mis-splicing causes a substitution of the 157th amino acid from glutamic acid to glycine and finally the 165th codon is changed to stop codon, possibly resulting in a truncated protein and/or a nonsense-mediated mRNA decay. The mutation cosegregated with the disease phenotype in the family.

Interventions

Medication and cataract surgery.

Outcomes

The phenotype of affected males is more serious than that of the carrier females, and the effect of clinical treatment is not very well.

Lessons

Next-generation sequencing is a suitable method for early detection of pathogenic mutations in RP, which would be helpful for prenatal diagnosis of the disease.

SUBMITTER: Wang J 

PROVIDER: S-EPMC6203575 | biostudies-literature | 2018 Oct

REPOSITORIES: biostudies-literature