Zheng Xiao, Ma Shao Gang, Guo Man Li, Qiu Ya Li, Yang Liu Xue
Department of Endocrinology and Metabolism, Puren Hospital Affiliated to Wuhan University of Science and Technology, Wuhan, P.R. China.
Department of Endocrinology and Metabolism, Nanxi Shan Hospital, Guangxi Zhuang Autonomous Region, P.R. China.
Yonsei Med J. 2017 Jul;58(4):888-890. doi: 10.3349/ymj.2017.58.4.888.
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.
双氧化酶2（DUOX2）和双氧化酶成熟因子2（DUOXA2）基因的突变可导致先天性甲状腺功能减退症（CH）。本研究报告了因DUOX2和DUOXA2基因存在杂合突变而导致的甲状腺肿性先天性甲状腺功能减退症（GCH）家系。两名患有GCH的姐妹在新生儿筛查时被诊断为CH，并被纳入本研究。对DUOX2、DUOXA2和甲状腺过氧化物酶（TPO）基因进行了遗传缺陷筛查。患者的家庭成员和正常对照也被纳入并进行评估。这两个女孩携带复合杂合突变，包括母亲DUOX2等位基因中的一个新突变c.2654G>T（p.R885L）和父亲DUOXA2等位基因中的c.738C>G（p.Y246X），该突变先前已有报道。来自这些家系的种系突变符合常染色体隐性遗传模式。未观察到TPO基因和对照中有突变。
