Copy Number Variation as a Cause of Thyroid dysgenesis

拷贝数变异是甲状腺发育不全的原因

• 批准号: 21791006
• 负责人: NARUMI Satoshi
• 金额: $ 2.41万
• 依托单位: Keio University
• 依托单位国家: 日本
• 项目类别: Grant-in-Aid for Young Scientists (B)
• 财政年份: 2009
• 资助国家: 日本
• 起止时间: 2009 至 2010
• 项目状态: 已结题
• 来源: https://kaken.nii.ac.jp/grant/KAKENHI-PROJECT-21791006/
• 关键词: 発生・分化; ゲノム; 遺伝学; マイクロアレイ; 先天性甲状腺機能低下症; 甲状腺発生異常; 分子遺伝学; ゲノム構造異常

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.

我们筛查了 57 名日本甲状腺发育不全患者的拷贝数变异 (CNV) 异常。其中，50名患者出现甲状腺外并发症，其余7名则没有。全基因组CNV分析显示，两名患有甲状腺外并发症（例如腭裂、心脏畸形）的患者具有看似致病性的CNV（缺失或重复），其大小约为3 Mb。尽管甲状腺发育不全的总体患病率较低，但 CNV 异常是复杂甲状腺发育不全的重要原因。

项目成果

One Novel and Two Recurrent THRB Mutations Associated with Resistance to Thyroid Hormone: Structure-based Computational Mutation Prediction.

• DOI: 10.1297/cpe.19.91
• 发表时间: 2010-10
• 期刊: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
• 作者: Narumi S;Cho H;Tamada I;Kozu Y;Tsuchiya T;Nagai T;Hasegawa T
• 通讯作者: Hasegawa T

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甲状腺形成異常におけるCopy number variation異常解析

甲状腺发育不良的拷贝数变异分析

• 发表时间: 2010
• 作者: 鳴海覚志;ほか
• 通讯作者: ほか

PAX8変異の機能喪失機序は多様である:転写因子解析のピットフォール

PAX8 突变的功能丧失机制多种多样：转录因子分析的陷阱

• 发表时间: 2010
• 作者: 鳴海覚志;ほか
• 通讯作者: ほか

Transcription Factor Mutations and Congenital Hypothyroidism: Systematic Genetic Screening of a Population-Based Cohort of Japanese Patients

• DOI: 10.1210/jc.2009-2373
• 发表时间: 2010-04-01
• 期刊: JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
• 影响因子: 5.8
• 作者: Narumi, Satoshi;Muroya, Koji;Hasegawa, Tomonobu
• 通讯作者: Hasegawa, Tomonobu