title: A novel dual oxidase maturation factor 2 gene mutation for congenital             hypothyroidism.
abstract: Congenital hypothyroidism (CH) is caused by thyroid hormone deficiency present at birth. DUOXA2 (dual oxidase maturation factor 2) is one of the prerequisites for thyroid hormone synthesis. The present study explored the novel mutations of DUOXA2 in CH patients. Genomic DNA was extracted from peripheral blood of 47 unrelated CH patients, their family members and 100 healthy controls. All 6 exons and their flanking sequences of the DUOXA2 gene were PCR amplified and sequenced. Sequencing results were compared with the standard. Compound heterozygosity with DUOXA2 gene mutations at c.413-414insA (Y138X) and c.738C>G (Y246X) was identified in one patient, and absent in 100 healthy controls. Among them, the c.413‑414insA (Y138X) mutation was a novel one. The patient with the c.413-414insA (Y138X) mutation had mild CH symptoms. This study is the first to report a novel c.413-414insA (Y138X) mutation for CH, thereby expanding the mutational spectrum of the DUOXA2 gene.
authors.affiliation: Department of Endocrinology and Metabolism, The First Affiliated                     Hospital, Fujian Medical University, Fuzhou, Fujian 350001, P.R. China.
authors.forename: Ru-Hai
authors.initials: RH
authors.lastname: Yi
authors.forename: Wen-Bin
authors.initials: WB
authors.lastname: Zhu
authors.forename: Li-Yong
authors.initials: LY
authors.lastname: Yang
authors.forename: Lan
authors.initials: L
authors.lastname: Lan
authors.forename: Yao
authors.initials: Y
authors.lastname: Chen
authors.forename: Jin-Fu
authors.initials: JF
authors.lastname: Zhou
authors.forename: Jing
authors.initials: J
authors.lastname: Wang
authors.forename: Yue-Qing
authors.initials: YQ
authors.lastname: Su
mesh_terms: D001483:Base Sequence; D002675:Child, Preschool; D003409:Congenital Hypothyroidism / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D016254:Mutagenesis, Insertional; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation
chemical_list: C513411:DUOXA2 protein, human; D008565:Membrane Proteins