Clinical phenotype and genetic analysis of a case of 5q14.3 microdeletion syndrome.
10.3760/cma.j.cn511374-20210119-00052
- VernacularTitle:一例5q14.3微缺失综合征患儿的临床表型及遗传学分析
- Author:
Xin XU
1
;
Hongying LI
;
Li ZHANG
;
Fen LU
;
Jian TANG
Author Information
1. Department of Rehabilitation, Children's Hospital of Nanjing Medical University, Nanjing, Jiangsu 210008, China. 1328169681@qq.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Deletion;
Chromosome Disorders;
DNA Copy Number Variations;
Genetic Testing;
Humans;
Male;
Phenotype;
Whole Exome Sequencing;
p120 GTPase Activating Protein
- From:
Chinese Journal of Medical Genetics
2021;38(11):1127-1131
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical features and genetic characteristics of a child with 5q14.3 microdeletion syndrome.
METHODS:Whole exome sequencing (WES) and low-coverage massively parallel copy number variation sequencing (CNV-seq) were used to determine the potentially pathogenic variants as well as the copy number variations (CNVs). Candidate CNVs were verified by real-time fluorescence quantitative PCR.
RESULTS:The patient presented with psychomotor retardation, epilepsy, peculiar face and hypotonia. The results of WES suggested that he has carried a heterozygous deletion for chr5:86 564 268-88 119 605. CNV-seq indicated that the patient carried a heterozygous deletion of 4.76 Mb heterozygous deletion on chromosome 5q14.3. The MEF2C gene and RASA1 gene in the deletion area were verified by real-time fluorescence quantitative PCR. The results showed that the MEF2C geneand RASA1 gene were heterozygous deletion, which was consistent with the sequencing results.
CONCLUSION:The child was diagnosed with 5q14.3 microdeletion syndrome. Haploinsufficiency of the MEF2C gene may underlie the manifestations of 5q14.3 microdeletion syndrome.
