在PTHLH中发生的一种新型异构基因突变,导致自体主导的甲状腺直觉症E型,并与矮身复杂
Jian Sun1, Nian Yang2, Zhengquan Xu3
1Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Molecular genetics & genomic medicine
|February 26, 2024
概括
在一个中国家族中发现了PTHLH基因的新型突变,该家族患有E型甲状腺症 (BDE) 和矮身. 这一发现扩大了BDE.的已知遗传原因.
科学领域:
- 遗传学 是一个遗传学.
- 医学遗传学 医学遗传学
- 骨发育不良症 骨发育不良症
背景情况:
- 甲状动脉障碍类型E (BDE) 是一种异质的骨疾病,其特征是缩短的手指骨和手足骨.
- 在BDE中,表型变异性和与综合征的关联是常见的.
- 矮身是BDE患者经常出现的临床表现.
研究的目的:
- 在一个多代的中国家庭中,确定Brachydactyly类型E (BDE) 的遗传原因.
- 描述与已识别的基因突变相关的临床特征.
- 扩大对BDE分子基础的理解.
主要方法:
- 从受影响的家庭成员收集临床数据和外周血液样本.
- 型分析和数组比较基因组杂交 (数组-CGH) 以排除染色体异常.
- 下一代测序 (NGS) 和桑格测序用于致病变体的鉴定和同分离分析.
主要成果:
- 型和阵列-CGH分析没有显示出任何显著的染色体异常.
- 在使用NGS的PTHLH基因中发现了一种新的异质合变异突变c.146dupA (p.S50Vfs*22).
- 鉴定到的突变导致过早停止和蛋白质截断,由桑格测序和共分离证实.
结论:
- 在一个中国家庭中,PTHLH基因的新型异质合变异与E型甲状腺症 (BDE) 和矮身有关.
- 鉴定到的突变导致了一个截断的PTHLH蛋白,可能导致观察到的表型.
- 这项研究扩大了涉及BDE的PTHLH基因突变的范围.
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