Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy.
10.3760/cma.j.cn511374-20200301-00117
- Author:
Yanchuan XIE
1
;
Zhouxian BAI
;
Zongli SUN
;
Lei GU
;
Xinyuan ZHANG
;
Xiangdong KONG
Author Information
1. Central Laboratory, the First Affiliated Hospital and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, Henan 471003, China. kongxd@263.net.
- Publication Type:Journal Article
- MeSH:
Corneal Dystrophies, Hereditary/pathology*;
Cytochrome P450 Family 4/genetics*;
Genetic Variation;
Humans;
Mutation;
Pedigree;
Phenotype;
Retinal Diseases/pathology*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1340-1343
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:The CYP4V2 gene of two pedigrees affected with Bietti crystalline corneoretinal dystrophy was analyzed to indentify the cause of the disease and provide a basis for clinical diagnosis.
METHODS:The probands were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. Pathogenicity of the variants were searched through relevant databases and PubMed by following the ACMG guidelines.
RESULTS:A homozygous variant in the CYP4V2 gene c. (802-8) _810delTCATACAGGTCATCGCTinsGC was detected in proband from pedigree 1, parents did not detect; CYP4V2 genes c. (802-8)_810delTCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) compound heterozygous variants existed in the proband of pedigree 2,both parents were variant carriers. The results of Sanger sequencing showed that the variant of CYP4V2 gene in the two families was consistent with the NGS sequencing. The c. (802-8)_810delTCATACAGGTCATCGCTinsGC of CYP4V2 gene was splicing variant, and both splicing variant and nonsense variant could produce truncated nonfunctional protein products. Based on standards and guidelines by American College of Medical Genetics and Genomics, the CYP4V2 genes c. (802-8)_810del TCATACAGGTCATCGCTinsGC and c. 958 C>T (p.Arg320X) were predicted to be pathogenic variants (PVS1+PS1+PM2+PM3).
CONCLUSION:The homozygous variant c. (802-8) _810delTCATACAGGTCATCGCTinsGC and the complex heterozygous variants c. (802-8) _810delTCATACAGGTCATCGCTinsGC and c.958C>T (p.Arg320X) in CYP4V2 gene are the cause of the disease in the probands of two pedigrees , respectively.
