Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.
Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt-Oram syndrome.
复制标题
在中国家族中识别新型TBX5突变，患有HOLT-ORAM综合征罕见的症状。
DOI：
10.1016/j.heliyon.2022.e11774
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发表时间：
2022-11
期刊：
影响因子：
4
通讯作者：
Zhu, Mingwei
中科院分区：
文献类型：
--
作者：
Li, Xia;Shi, Weizhe;Ding, Xuejiao;Li, Jingchun;Li, Yiqiang;Nong, Tianying;Xu, Hongwen;Zhu, Mingwei
Holt-Oram综合征（HOS）是一种罕见的常染色体显性遗传病，以上肢骨骼异常和心脏畸形为特征。我们调查了一个具有提示居屋综合症临床特征的中国家庭。临床检查显示，先证者和他的父亲在上肢和心脏都有异常。先证者有一个罕见的普通心房。全外显子组测序在已知的HOS致病基因TBX5基因中检测到一个新的小插入突变（c.680_681insCTGAGAATAAT; p.Ile227fs∗）。该突变在家族中与HOS表型共分离，预计会引起移码，导致蛋白截短。在本研究中，我们描述了一个罕见的有共同心房的居屋综合症病例。在TBX5编码序列中发现了一个新的小插入，并推测这是该家族的致病遗传变异。我们的发现扩大了HOS的临床特征谱和遗传病因谱。Holt-Oram综合症;常见的心房;Ehole外显子组测序；TBX5;小说突变。
Holt–Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by skeletal abnormalities of the upper limbs and often cardiac malformations. We investigated a Chinese family with clinical features suggestive of HOS. Clinical examinations revealed that both the proband and his father had anomalies in the upper limbs and heart. The proband had a rare common atrium. Whole exome sequencing detected a novel small–insertion mutation (c.680_681insCTGAGAATAAT; p.Ile227fs∗) in TBX5 gene, the known disease gene for HOS. The mutation cosegregated with HOS phenotypes in the family and was predicted to cause frameshift, resulting in a truncated protein. In this study, we described a rare HOS case with common atrium. A novel small–insertion in TBX5 coding sequence was identified and speculated to be the disease–causing genetic variant in the family. Our finding expands the clinical feature spectrum and genetic aetiology spectrum of HOS. Holt–Oram syndrome; Common atrium; Ehole exome sequencing; TBX5; Novel mutation.
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影响因子：
4
作者：
Fan, C;Duhagon, M A;Wang, Q
通讯作者：
Wang, Q
影响因子：
158.5
作者：
BASSON, CT;COWLEY, GS;SEIDMAN, CE
通讯作者：
SEIDMAN, CE
影响因子：
5.2
作者：
Vanlerberghe, Clemence;Jourdain, Anne-Sophie;Petit, Florence
通讯作者：
Petit, Florence
影响因子：
2
作者：
Dressen, Martina;Lahm, Harald;Lahm, Armin;Wolf, Klaudia;Doppler, Stefanie;Deutsch, Marcus-Andre;Cleuziou, Julie;von Ohain, Jelena Pabst;Schoen, Patric;Ewert, Peter;Malcic, Ivan;Lange, Ruediger;Krane, Markus
通讯作者：
Krane, Markus
影响因子：
3.5
作者：
Zaragoza, MV;Lewis, LE;Huang, TS
通讯作者：
Huang, TS