Analysis of RECQL4 gene variant in a child with Rothmund-Thomson syndrome.
10.3760/cma.j.cn511374-20201020-00736
- Author:
Qiuping WU
1
;
Weiqi WENG
;
Jinna YUAN
;
Xiaoqin XU
;
Ke HUANG
;
Guanping DONG
;
Junfen FU
;
Wei WU
Author Information
1. Department of Endocrinology, The Affiliated Children's Hospital of Zhejiang University School of Medicine, National Clinical Research Center for Child Health, National Children's Regional Medical Center, Hangzhou, Zhejiang 310052, China. wuwei120@zju.edu.cn.
- Publication Type:Journal Article
- MeSH:
Child;
Family;
Female;
Humans;
Mutation;
RecQ Helicases/genetics*;
Rothmund-Thomson Syndrome/genetics*;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2022;39(1):31-34
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with Rothmund-Thomson syndrome (RTS).
METHODS:The child has featured poikeloderma, short stature, cataract, sparse hair and skeletal malformation. Peripheral blood samples of the child and her family members were collected and subjected to whole exome sequencing. Candidate variants were verified by Sanger sequencing.
RESULTS:The child was found to harbor compound heterozygous variants of the RECQL4 gene, namely c.1048_1049delAG and c.2886-1G>A, among which c.2886-1G>A was unreported previously. According to the ACMG guidelines, the c.1048_1049delAG was predicted to be pathogenic (PVS1+PM3_Strong+PM2), while the c.2886-1G>A was predicted to be likely pathogenic (PVS1+PM2).
CONCLUSION:The compound heterozygous variants of the RECQL4 gene probably underlay the pathogenesis of RTS in this patient. Above finding has enriched the mutational spectrum of the RECQL4 gene.
