Analysis of a patient with Retinitis pigmentosa due to a novel variant of IMPDH1 gene
10.3760/cma.j.cn511374-20230315-00138
- VernacularTitle:IMPDH1基因新变异导致的视网膜色素变性1例患者的遗传学分析
- Author:
Ruiqiong YANG
1
;
Ling HUI
;
Chuan ZHANG
;
Qinghua ZHANG
;
Yupei WANG
;
Shengju HAO
Author Information
1. 甘肃省妇幼保健院医学遗传中心，兰州 730050
- Keywords:
Retinitis pigmentosa;
IMPDH1 gene;
Whole exome sequencing;
Missense variant
- From:
Chinese Journal of Medical Genetics
2024;41(4):456-460
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a patient with autosomal dominant retinitis pigmentosa (RP).Methods:A male patient with RP treated at Gansu Provincial Maternal and Child Health Care Hospital in September 2019 was selected as the study subject. Clinical data was collected. Peripheral blood samples of the patient and his parents were subjected to whole exome sequencing (WES). Candidate variant was validated by Sanger sequencing and bioinformatic analysis.Results:The patient, a 29-year-old male, developed night blindness, amblyopia, visual field defects and optic disc abnormalities since childhood. Gene sequencing revealed that he has harbored a heterozygous c. 942G>C (p.Lys314Asn) variant of the IMPDH1 gene, which was inherited from his mother, whilst his father was of the wild type. Based on the guidelines from the American College of Medical Genetics and Genomics, the c. 942G>C variant was predicted as likely pathogenic (PM1+ PM2_Supporting+ PP3+ PP1). Conclusion:The c. 942G>C (p.Lys314Asn) variant in the IMPDH1 gene probably underlay the RP in this patient.
