Copy Number Variation as a Cause of Thyroid dysgenesis

我们筛选了57例日本甲状腺发育不全患者的拷贝数变异（CNV）异常。其中，50例患者有甲状腺外并发症，而其余7例没有。全基因组CNV分析显示，两名甲状腺外并发症患者（例如，腭裂、心脏畸形）具有看似致病的CNV（缺失或复制），其大小约为3Mb。CNV异常是复杂的甲状腺发育不良的重要原因，尽管甲状腺发育不良的总体患病率较低。

We screened copy number variation (CNV) abnormalities in 57 Japanese patients with thyroid dysgenesis. Among them, 50 patients had extrathyroidal complications, while the remaining seven did not. The genome-wide CNV analyses showed that two patients with extrathyroidal complications (e.g., cleft palate, cardiac malformation) had a seemingly pathogenic CNV (deletion or duplication), of which size was about 3 Mb. CNV abnormalities are important causes of complicated thyroid dysgenesis, although the overall prevalence among thyroid dysgenesis is low.