Gene mutation detection of the posterior microphthalmia-retinal pigment degeneration family
10.3760/cma.j.cn511434-20201124-00584
- VernacularTitle:后节小眼畸形-视网膜色素变性一家系致病基因突变检测
- Author:
Jie LI
1
;
Shaohui GAO
;
Yasi XING
;
Xiaonan LU
;
Shuzhen DAI
Author Information
1. 河南省人民医院眼科 郑州大学人民医院眼科 河南省立眼科医院 河南省眼科研究所 河南省眼科学与视觉科学重点实验室 450003
- Keywords:
Microphthalmos;
Retinitis pigmentosa;
MFRP gene mutation
- From:
Chinese Journal of Ocular Fundus Diseases
2021;37(11):848-853
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To identify the causative genes of the posterior microphthalmia-retinal pigment degeneration family.Methods:A retrospective clinical study. One child (proband) and 3 family members of a family with posterior microphthalmia-retinitis pigmentosa diagnosed by clinical and genetic examination at Henan Provincial People's Hospital in July 2019 were included in the study. Medical history and family history, and draw pedigree of the patients was collected. Visual acuity, visual field, fundus color photography, optical coherence tomography and electroretinogram (ERG) were examined. The peripheral venous blood of the proband, his parents and sister, and extract the whole genome DNA was collected. Whole-exome sequencing was used to detect genetic variations, the suspected pathogenic variations were verified by Sanger sequencing, and the pathogenicity was determined by bioinformatics analysis.Results:The parents discovered the proband was poor vision at the age of 10 months. At the age of 3, the best corrected visual acuity of the right eye and the left eye were 0.3 and 0.4, respectively. No abnormality was found in anterior segment. Extremely high hyperopia in both eyes. The axial length was 14.47 mm and 15.78 mm, respectively. The optic disc of both eyes was relatively small and flushed, retinal folds can be observed in macular area, and no obvious pigment deposition was found. ERG examination showed that the rod system response and the maximal combined response of both eyes decreased slightly to moderately, and the single-flash cone response and the 30 Hz flicker response decreased moderately to severely. Genetic analysis revealed two novel mutations in the membrane frizzled-related protein ( MFRP) gene in the proband: c.363delC/p.Thr121Thrfs*16, c.1627C>T/p.Gln543Stop,37 in exon 4 and 13, the former was a frameshift mutation, encoding 16 amino acids and then terminated, and the latter was an nonsense mutation, truncated 37 amino acids, both which were predicted to be pathogenic and segregate with disease. The mother and sister carried c.363delC, and the father carried c.1627C>T. Conclusion:MFRP gene c.363delC/p.Thr121Thrfs*16, c.1627C >T/p.Gln543Stop, 37 compound heterozygous mutation may be the pathogenic gene of this family.
