Identification of a novel RHO mutation in a pedigree affected with retinitis pigmentosa.
10.3760/cma.j.issn.1003-9406.2019.03.010
- Author:
Zhouxian BAI
1
;
Lina LIU
;
Shuang HU
;
Qinghua WU
;
Xiangdong KONG
Author Information
1. Genetic and Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450000, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
DNA Mutational Analysis;
Eye Proteins;
Humans;
Mutation;
Mutation, Missense;
Pedigree;
Phenotype;
Retinitis Pigmentosa;
genetics
- From:
Chinese Journal of Medical Genetics
2019;36(3):234-237
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To identify the pathogenic mutation underlying retinitis pigmentosa in a large pedigree.
METHODS:The pedigree has included three generations showing an autosomal dominant transmission of retinitis pigmentosa. Potential mutations were screened using a retinitis pigmentosa gene panel and an Ion PGM platform. Suspected mutation was verified by Sanger sequencing.
RESULTS:A novel heterozygous missense mutation, c.251T>C(p.Leu84Pro), was identified in the RHO gene. The mutation has co-segregated with the retinitis pigmentosa phenotype among all family members and was not found in public databases ExAC, 1000G and dbSNP or 831 healthy controls. The mutation was predicted to be damaging by three major protein-predicting software.
CONCLUSION:The c.251T>C (p.Leu84Pro) mutation of the RHO gene is a novel pathogenic mutation underlying the retinitis pigmentosa phenotype in this pedigree. Above findings have enabled prenatal diagnosis for the pedigree.
