Ma Shao-Gang, Wu Xiao-Juan, Liu Hong, Xu Wei, He Le
Department of Endocrinology and Metabolism, Xuzhou Medical College, Huai'an, China.
Arq Bras Endocrinol Metabol. 2012 Dec;56(9):614-7. doi: 10.1590/s0004-27302012000900003.
To investigate thyroid peroxidase gene (TPO) mutations in a Chinese siblings with congenital goitrous hypothyroidism (CGH).
The proband, his sister, and their parents were enrolled. All subjects underwent clinical examination and laboratory tests. Mutation screening of the TPO gene was performed by sequencing fragments amplified from extracted genomic DNA.
The siblings were diagnosed as CGH with neurodevelopmental deficits. Two compound heterozygous inactivating mutations were found in the two patients: a frameshift mutation between positions 2268 and 2269 (c.2268-2269 insT) and a missense mutation at c.2089 G>A (p.G667S) of the TPO gene. Their parents, with normal thyroid hormone levels, were heterozygous for mutations c.2268-2269 insT and c.2089 G>A, respectively. The polymorphisms of c.1207 G>T, c.1283 G>C, and c.2088 C>T were detected in the family.
CGH of the Chinese siblings was due to the TPO gene mutations (c.2268-2269 insT and c.2089 G>A).
研究中国一对患先天性甲状腺肿性甲状腺功能减退症（CGH）的同胞兄妹的甲状腺过氧化物酶基因（TPO）突变情况。
纳入先证者、其妹妹及其父母。所有受试者均接受临床检查和实验室检测。通过对从提取的基因组DNA中扩增的片段进行测序，对TPO基因进行突变筛查。
这对同胞兄妹被诊断为患有神经发育缺陷的CGH。在两名患者中发现了两个复合杂合失活突变：TPO基因第2268和2269位之间的移码突变（c.2268 - 2269 insT）以及第2089位c.2089 G>A的错义突变（p.G667S）。他们甲状腺激素水平正常的父母分别为c.2268 - 2269 insT和c.2089 G>A突变的杂合子。在该家族中检测到了c.1207 G>T、c.1283 G>C和c.2088 C>T的多态性。
这对中国同胞兄妹的CGH是由TPO基因突变（c.2268 - 2269 insT和c.2089 G>A）所致。
