title: A Novel c.554+5C>T Mutation in the DUOXA2 Gene Combined with p.R885Q Mutation in the DUOX2 Gene Causing Congenital Hypothyroidism.
abstract: The coexistence of mutations in the dual oxidase maturation factor 2 (DUOXA2) and dual oxidase 2 (DUOX2) genes is rarely identified in congenital hypothyroidism (CH). This study reports a boy with CH due to a novel splice-site mutation in the DUOXA2 gene and a missense mutation in the DUOX2 gene. A four-year-old boy was diagnosed with CH at neonatal screening and was enrolled in this study. The DUOXA2, DUOX2, thyroid peroxidase (TPO), and thyrotropin receptor (TSHR) genes were considered for genetic defects screening. Genomic DNA was extracted from peripheral blood leukocytes, and Sanger sequencing was used to screen the mutations in the exon fragments. Family members of the patient and the controls were also enrolled and evaluated. The boy harbored compound heterozygous mutations including a novel splice-site mutation c.554+5C>T in the maternal DUOXA2 allele and c.2654G>A (p.R885Q) in the paternal DUOX2 allele. The germline mutations from his parents were consistent with an autosomal recessive inheritance pattern. No mutations in the TPO and TSHR genes were detected. A novel splice-site mutation c.554+5C>T in the DUOXA2 gene and a mutation p.R885Q in the DUOX2 gene were identified in a 4-year-old patient with goitrous CH.
authors.forename: Xiao
authors.initials: X
authors.lastname: Zheng
authors.affiliation: Huai'an Hospital Affiliated to Xuzhou Medical College and Huai'an Second People's Hospital, Clinic of Endocrinology and Metabolism, Huai'an, China Phone: 86-517-8394 3591 E-mail: mashaogang@163.com.
authors.forename: Shao Gang
authors.initials: SG
authors.lastname: Ma
authors.forename: Ya Li
authors.initials: YL
authors.lastname: Qiu
authors.forename: Man Li
authors.initials: ML
authors.lastname: Guo
authors.forename: Xiao Juan
authors.initials: XJ
authors.lastname: Shao
mesh_terms: D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000235:genetics*; D004252:DNA Mutational Analysis; D000074623:Dual Oxidases; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D019255:NADPH Oxidases / Q000235:genetics*; D010375:Pedigree
chemical_list: C513411:DUOXA2 protein, human; D008565:Membrane Proteins; D000074623:Dual Oxidases; D019255:NADPH Oxidases; C431515:DUOX2 protein, human