Clinical and genetic analysis of a novel CHD4 gene variant in a Chinese patient with Sifrim-Hitz-Weiss syndrome.
10.3760/cma.j.cn511374-20191120-00594
- Author:
Xinlong ZHOU
1
;
Qingming WANG
;
Yanhui LIU
;
Jianxin LIU
;
Haiming YUAN
Author Information
1. Dongguan Maternal and Child Health Care Hospital, Dongguan, Guangdong 523120, China. haimingyuan@sina.cn.
- Publication Type:Journal Article
- MeSH:
Child, Preschool;
China;
Congenital Abnormalities/genetics*;
Female;
Genetic Association Studies;
Genetic Testing;
Humans;
Mi-2 Nucleosome Remodeling and Deacetylase Complex/genetics*;
Phenotype;
Pregnancy;
Syndrome;
Whole Exome Sequencing
- From:
Chinese Journal of Medical Genetics
2021;38(1):63-66
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genotype-phenotype correlation of a case with Sifrim-Hitz-Weiss syndrome (SIHIWES) caused by a novel CHD4 gene variant.
METHODS:Genomic DNA was extracted from peripheral blood samples of the patient and her parents. Whole-exome sequencing (WES) was carried out for the patient.Suspected variant was verified by Sanger sequencing.
RESULTS:The proband, a 2-year-old Chinese girl, presented with global developmental delay, intellectual disability, distinctive facial features and multiple congenital anomalies. Her prenatal manifestations included increased nuchal thickness, cranial and facial anomalies, and decreased fetal movement. WES has identified a novel variant in the CHD4 gene, namely NM_001273:c.2989C>G (p.Leu997Val) (GRCh37/hg19).Comparison of her phenotype with previously reported SIHIWES cases suggested that our patient's prenatal presentations were unreported before, with novel features including funduscopic anomaly, facial dysmorphisms such as asymmetrical ears, drooping eyelid, long philtrum and downturned mouth.
CONCLUSION:Above findings have expanded the mutational spectrum of the CHD4 gene and revealed novel phenotypes in Chinese patients with SIHIWES.
