Clinical phenotype and genetic analysis of a child with 14q12q13 microdeletion syndrome manifesting as congenital hypothyroidism.
10.3760/cma.j.cn511374-20220416-00254
- VernacularTitle:以先天性甲状腺功能减退为表现的14q12q13.3微缺失综合征患儿1例的临床及遗传学分析
- Author:
Jie WANG
1
;
Hongjuan LI
;
Shuhua YUAN
;
Xuemei SUN
;
Xi PENG
;
Yanyan HU
Author Information
1. Linyi People's Hospital Postgraduate Training Base, Jinzhou Medical University, Jinzhou, Liaoning 121001, China. hyanyansmile@hotmail.com.
- Publication Type:Journal Article
- MeSH:
Female;
Humans;
Congenital Hypothyroidism/genetics*;
DNA Copy Number Variations;
Phenotype;
Syndrome;
Microarray Analysis
- From:
Chinese Journal of Medical Genetics
2023;40(5):598-603
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the clinical phenotype and genetic etiology for a child featuring congenital hypothyroidism (CH).
METHODS:Whole exome sequencing (WES), copy number variation (CNV) sequencing and chromosomal microarray analysis (CMA) were carried out for a newborn infant who had presented at Linyi People's Hospital for CH. Clinical data of the child was analyzed, in addition with a literature review.
RESULTS:The main characteristics of the newborn infant had included peculiar face, vulvar edema, hypotonia, psychomotor retardation, recurrent respiratory tract infection with laryngeal wheezing and feeding difficulties. Laboratory test indicated hypothyroidism. WES suggested a CNV deletion on chromosome 14q12q13. CMA further confirmed a 4.12 Mb deletion at chromosome 14q12q13.3 (32649595_36769800), which has encompassed 22 genes including NKX2-1, the pathogenic gene for CH. The same deletion was found in neither of her parents.
CONCLUSION:Through the analysis of clinical phenotype and genetic variant, the child was diagnosed with 14q12q13.3 microdeletion syndrome.
