Identification of a NONO gene variant in a child with congenital heart disease and global developmental delay.
10.3760/cma.j.cn511374-20220730-00508
- VernacularTitle:先天性心脏病伴全面发育迟缓患儿1例的
NONO基因变异分析
- Author:
Yuqing LEI
1
;
Xiaoyan PENG
;
Xinrui WANG
;
Hua CAO
Author Information
1. Fujian Maternity and Child Health Care Hospital, College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian 350005, China. caohua69@fjmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
Humans;
Male;
Computational Biology;
DNA-Binding Proteins;
Genetic Counseling;
Genomics;
Heart Defects, Congenital/genetics*;
Mutation;
Parents;
RNA-Binding Proteins;
Child, Preschool;
Developmental Disabilities/genetics*
- From:
Chinese Journal of Medical Genetics
2023;40(6):691-695
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the genetic basis for a child with congenital heart disease (CHD) and global developmental delay (GDD).
METHODS:A child who was hospitalized at the Department of Cardiac Surgery of Fujian Children's Hospital on April 27, 2022 was selected as the study subject. Clinical data of the child was collected. Umbilical cord blood sample of the child and peripheral blood samples of his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing and bioinformatic analysis.
RESULTS:The child, a 3-year-and-3-month-old boy, had manifested cardiac abnormalities and developmental delay. WES revealed that he had harbored a nonsense variant of c.457C>T (p.Arg153*) in the NONO gene. Sanger sequencing showed that neither of his parents has carried the same variant. The variant has been recorded by the OMIM, ClinVar and HGMD databases, but not in the normal population databases of 1000 Genomes, dbSNP and gnomAD. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), it was rated as a pathogenic variant.
CONCLUSION:The c.457C>T (p.Arg153*) variant of the NONO gene probably underlay the CHD and GDD in this child. Above finding has expanded the phenotypic spectrum of the NONO gene and provided a reference for the clinical diagnosis and genetic counseling for this family.
