Genetic analysis and prenatal diagnosis of a Chinese pedigree affected with Usher syndrome due to novel compound heterozygous variants of PCDH15 gene.
10.3760/cma.j.cn511374-20210309-00201
- Author:
Ke YANG
1
;
Yuwei ZHANG
;
Guiyu LOU
;
Na QI
;
Bing ZHANG
;
Bing KANG
;
Xingxing LEI
;
Shixiu LIAO
Author Information
1. Medical Genetic Institute of Henan Provincial People's Hospital, People's Hospital of Zhengzhou University, Henan Provincial People's Hospital, Zhengzhou, Henan 450003, China. 1004946490@qq.com.
- Publication Type:Journal Article
- MeSH:
Cadherin Related Proteins;
Cadherins/genetics*;
Child;
China;
Female;
Genetic Testing;
Humans;
Infant, Newborn;
Pedigree;
Pregnancy;
Prenatal Diagnosis;
Usher Syndromes/genetics*
- From:
Chinese Journal of Medical Genetics
2022;39(3):305-308
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical features and genetic variant in a patient with Usher syndrome.
METHODS:Whole exome sequencing was carried out for the patient. Suspected variants were validated by Sanger sequencing of her parents and fetus.
RESULTS:The proband was found to harbor compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene (NM_033056), which were respectively inherited from her father and mother. The same variants were not detected in 100 healthy controls. Based on the guidelines of the American Society of Medical Genetics and Genomics, both variants were predicted to be pathogenic (PVS1+PM2+PP4). By prenatal diagnosis, her fetus was found to carry the c.4095_4096insA variant. After birth, the child has passed neonatal hearing screening test, and no abnormal auditory and visual function was found after the first year.
CONCLUSION:The compound heterozygous variants c.17_18insA (p.Tyr6Ter*) and c.4095_4096insA (p.Arg1366Lys fs*38) of the PCDH15 gene probably underlay the Usher syndrome is this proband.
