人类甲状腺过氧化物酶（TPO）基因的两个新突变：四名儿童的遗传学及临床发现
Two novel mutations in the human thyroid peroxidase (TPO) gene: genetics and clinical findings in four children.
作者信息
Simm Diemud, Pfarr Nicole, Pohlenz Joachim, Prawitt Dirk, Dörr Helmuth G
机构信息
Division of Pediatric Endocrinology, Hospital for Children and Adolescents, Friedrich-Alexander-University of Erlangen-Nuremberg, Erlangen, Germany.
出版信息
Acta Paediatr. 2009 Jun;98(6):1057-61. doi: 10.1111/j.1651-2227.2009.01236.x. Epub 2009 Feb 20.
UNLABELLED
We report four children originating from two unrelated German families with congenital hypothyroidism (CH) due to mutations in the thyroid peroxidase (TPO) gene. Three female siblings (family 1) were found to be compound heterozygous for two mutations, a known mutation in exon 9 (W527C), and a mutation in exon 8 (Q446H), which has not been described before. In the second family we identified a boy with goitrous CH, who had a novel homozygous mutation in the TPO gene in exon 16 (W873X). All children of family 1 were diagnosed postnatally by newborn screening. The case of the boy of family 2 has already been reported for the in utero treatment of a goiter with hypothyroidism.
CONCLUSION
Our results confirm existing data on the phenotypic variability of patients with TPO gene mutations.
未标注
我们报告了来自两个不相关德国家庭的4名患有先天性甲状腺功能减退症（CH）的儿童，其病因是甲状腺过氧化物酶（TPO）基因突变。在一个家庭中，3名女性同胞（家庭1）被发现为两个突变的复合杂合子，一个是外显子9中的已知突变（W527C），另一个是外显子8中的突变（Q446H），该突变此前未曾被描述过。在第二个家庭中，我们鉴定出一名患有甲状腺肿性CH的男孩，他在外显子16的TPO基因中存在一个新的纯合突变（W873X）。家庭1的所有儿童均通过新生儿筛查在出生后被诊断出来。家庭2中该男孩的病例已被报道用于甲状腺肿合并甲状腺功能减退症的宫内治疗。
结论
我们的结果证实了关于TPO基因突变患者表型变异性的现有数据。
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