Analysis of genetic variation for a child affected with congenital insensitivity to pain with anhidrosis and albinism by whole genome sequencing.
10.3760/cma.j.cn511374-20200521-00369
- Author:
Chaoyue JIANG
1
;
Shaohua TANG
;
Huanzheng LI
;
Xueqin XU
;
Chunming DING
Author Information
1. School of Laboratory Medicine and Life Sciences, Wenzhou Medical University, Wenzhou, Zhejiang 325035, China. cmdingchina@qq.com.
- Publication Type:Journal Article
- MeSH:
Albinism;
Child;
DNA Mutational Analysis;
Hereditary Sensory and Autonomic Neuropathies/genetics*;
Heterozygote;
Humans;
Membrane Transport Proteins;
Mutation;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(5):472-476
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic variation of a Chinese family affected with congenital insensitivity to pain with anhidrosis and albinism.
METHODS:Whole exome sequencing (WES) was carried out to screen potential variants within genomic DNA extracted from the proband and his parents. Whole genome sequencing (WGS) was applied when variants were not found completely. Suspected variants were validated by Sanger sequencing.
RESULTS:WES has identified a heterozygous c.1729G>C (p.G577R) variant of NTRK1 gene and two heterozygous variants of OCA2 gene, namely c.1363A>G (p.R455G) and c.1182+1G>A. WGS has identified two additional heterozygous variants c.(851-798C>T; 851-794C>G) in deep intronic regions of the NTRK1 gene.
CONCLUSION:The compound heterozygous variants of the NTRK1 gene probably underlay the congenital insensitivity to pain with anhidrosis. And the compound heterozygous variants of the OCA2 gene probably underlay the albinism in the proband. In the case where no variant is detected by WES in the coding region, WGS should be considered to screen potential variants in the whole genome.
