Clinical characteristics and genetic variant analysis of a child with Snijders Blok-Campeau syndrome.
10.3760/cma.j.cn511374-20221108-00768
- Author:
Yuke LI
1
;
Xiaona WANG
;
Mengyuan LIU
;
Yang GAO
;
Baiyun CHEN
;
Daoqi MEI
;
Huichun ZHANG
;
Chao GAO
Author Information
1. Department of Rehabilitation Medicine, Children's Hospital Affiliated to Zhengzhou University/Henan Children's Hospital/Zhengzhou Children's Hospital, Zhengzhou, Henan 450018, China. gaochao996@sina.com.
- Publication Type:Journal Article
- MeSH:
DNA Copy Number Variations;
Heterozygote;
Pedigree;
Phenotype;
RNA Splicing;
Mutation
- From:
Chinese Journal of Medical Genetics
2023;40(4):402-407
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic variant of a child with Snijders Blok-Campeau syndrome (SBCS).
METHODS:A child who was diagnosed with SBCS in June 2017 at Henan Children's Hospital was selected as the study subject. Clinical data of the child was collected. Peripheral blood samples of the child and his parents were collected and the extraction of genomic DNA, which was subjected to trio-whole exome sequencing (trio-WES) and genome copy number variation (CNV) analysis. Candidate variant was verified by Sanger sequencing of his pedigree members.
RESULTS:The main clinical manifestations of the child have included language delay, intellectual impairment and motor development delay, which were accompanied with facial dysmorphisms (broad forehead, inverted triangular face, sparse eyebrows, widely spaced eyes, narrow palpebral fissures, broad nose bridge, midface hypoplasia, thin upper lip, pointed jaw, low-set ears and posteriorly rotated ears). Trio-WES and Sanger sequencing revealed that the child has harbored a heterozygous splicing variant of the CHD3 gene, namely c.4073-2A>G, for which both of his parents were of wild-type. No pathogenic variant was identified by CNV testing.
CONCLUSION:The c.4073-2A>G splicing variant of the CHD3 gene probably underlay the SBCS in this patient.
