Genotype and clinical phenotype analysis of a five-generation Ningxia family with autosomal dominant retinitis pigmentosa pedigree
10.3760/cma.j.cn115989-20190212-00050
- VernacularTitle:宁夏地区一遗传性视网膜色素变性五代家系基因型和临床表型分析
- Author:
Weining RONG
1
;
Fangxia ZHANG
;
Yani LIU
;
Bo LEI
;
Xunlun SHENG
Author Information
1. 宁夏回族自治区人民医院宁夏眼科医院 西北民族大学第一附属医院 宁夏致盲性眼病临床医学研究中心 750001
- From:
Chinese Journal of Experimental Ophthalmology
2020;38(8):675-679
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify the pathogenic mutation in a five-generation Ningxia family with autosomal dominant retinitis pigmentsoa (adRP) and to analyze its associated clinical phenotype.Methods:One adRP pedigree was recruited for this study.All the patients and family members received complete ophthalmic examinations.DNA was abstracted from peripheral blood of three patients, one normal family member and 300 normal controls.Using whole exome sequencing (WES) chip and bioinformatics analysis to screen the candidate disease-causing mutations.PCR and direct sequencing were used to confirm the disease-causing mutations.Genotype-phenotype correlation was also analyzed.This study followed the Declaration of Helsinki.The study protocol was approved by the Ethics Committee of People's Hospital of Ningxia Hui Autonomous Region (No.20160204).Results:PRPF31 c. C1048T (p.Q350X) nonsense mutation was identified as the disease-causing mutation for this family by WES chip, PCR and direct sequencing.This family demonstrated early onset of the disease by presenting nyctalopia from 5 to 6 years, performed rapid disease progression, severely impaired visual function and posterior subcapsular cataract.The fundus presentations and electroretinogram (ERG) results showed typical RP progressions. Conclusions:PRPF31 c. C1048T (p.Q350X) nonsense mutation is the disease-causing mutation of this family.This mutation is first reported in Chinese with distinct phenotypes in the present family, including early onset of the disease, rapid disease progression, severely impaired visual function and posterior subcapsular cataract.
