Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism.
10.3349/ymj.2017.58.4.888
- Author:
Xiao ZHENG
1
;
Shao Gang MA
;
Man Li GUO
;
Ya Li QIU
;
Liu Xue YANG
Author Information
1. Department of Endocrinology and Metabolism, Puren Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, P.R. China.
- Publication Type:Case Report
- Keywords:
Congenital hypothyroidism;
dual oxidase 2;
dual oxidase maturation factor 2;
mutation
- MeSH:
Alleles;
Congenital Hypothyroidism*;
Female;
Germ-Line Mutation;
Humans;
Infant, Newborn;
Inheritance Patterns;
Iodide Peroxidase;
Mass Screening;
Neonatal Screening;
Oxidoreductases;
Pedigree;
Siblings
- From:Yonsei Medical Journal
2017;58(4):888-890
- CountryRepublic of Korea
- Language:English
-
Abstract:
The mutations in the dual oxidase 2 (DUOX2) and dual oxidase maturation factor 2 (DUOXA2) genes can cause congenital hypothyroidism (CH). This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes. The two sisters with GCH were diagnosed with CH at neonatal screening and were enrolled in this study. The DUOX2, DUOXA2, and thyroid peroxidase (TPO) genes were considered for genetic defects screening. Family members of the patients and normal controls were also enrolled and evaluated. The two girls harbored compound heterozygous mutations, including a new mutation of c.2654G>T (p.R885L) in the maternal DUOX2 allele and c.738C>G (p.Y246X) in the paternal DUOXA2 allele, that has been previously reported. The germline mutations from the families were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO gene and the controls were observed.
