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作者

Liu, S. Zhang, W. Zhang, L. Zou, H. Lu, K. Li, Q. Xia, H. Yan, S. Ma, X.

作者单位

h Andrology Department, The Affiliated Hospital of Qingdao University, Qingdao, 266003, China Endocrinology Department, The Affiliated Hospital of Qingdao University, Qingdao, 266003, China a Prenatal Diagnosis Center, The Affiliated Hospital of Qingdao University, Qingdao, 266003, China Genetic Laboratory, The Affiliated Hospital of Qingdao University, Qingdao, 266003, China Neonatal Screening Center, Qingdao Women and Children Medical Healthcare Center, Qingdao, 266003, China Endocrinology Department, Liaocheng People's Hospital, Liaocheng, 252002, China j National Research Institute for Family Planning, Beijing, 100081, China g Endocrinology Department, The Affiliated Hospital of Taishan Medical College, Taian, 271000, China i Graduate School, Peking Union Medical College, Beijing, 100000, China k World Health Organization Collaborating Centre for Research in Human Reproduction, Beijing, 100000, China f Neonatal Screening Center, Jinan Women and Children Medical Healthcare Center, Jinan, 250000, China

刊名

Oncotarget

年份

2018

卷号

Vol.9 No.4

页码

4366-4374

ISSN

1949-2553

关键词

Congenital hypothyroidism DUOX2 DUOXA2 Function Mutation

分类号

616.992

摘要

Mutations in the dual oxidase 2 gene impair hydrogen peroxide production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism with goiter. In this study, we identified DUOX2 mutations that were causative for CH and explored the effects of these mutations on DUOX2 function. Blood samples were collected from 10 infants born with CH and goiter to unrelated parents. We extracted genomic DNA and sequenced all exons by polym...更多

Mutations in the dual oxidase 2 gene impair hydrogen peroxide production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism with goiter. In this study, we identified DUOX2 mutations that were causative for CH and explored the effects of these mutations on DUOX2 function. Blood samples were collected from 10 infants born with CH and goiter to unrelated parents. We extracted genomic DNA and sequenced all exons by polymerase chain reaction direct sequencing. The effects of DUOX2 mutations were characterized by H 2 O 2 production assays and cycloheximide chase experiments. Sequence analysis revealed one novel DUOX2 mutation and one known DUOX2 mutation in unrelated families: c.1060C > T and c.3616 G > A . Both mutations impaired H 2 O 2 production. CHX chase experiments demonstrated the DUOX2 mutants had shorter half-lives and degraded more rapidly than wild-type DUOX2. Our study identified two novel DUOX2 mutations in Chinese patients with CH and goiter, which were responsible for the deficit in the organification process.收起

学科

【SCI学科】CELL BIOLOGY;ONCOLOGY 【ESI学科】MOLECULAR BIOLOGY & GENETICS

影响因子

2016年:5.168;2015年:5.008;2014年:6.359;2013年:6.627;2012年:6.636

文献类型

期刊

浏览量

12