Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome
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DOI：
10.1038/ng0197-30
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发表时间：
1997-01-01
期刊：
影响因子：
30.8
通讯作者：
Seidman, CE
中科院分区：
文献类型：
--
作者：
Basson, CT;Bachinsky, DR;Seidman, CE
Holt-Gram综合征的特征是上肢畸形和心脏间隔缺损，在这里，我们证明了人类TBX 5基因的突变是这种疾病的基础。TBX 5是从人染色体12q24.1上的疾病位点克隆的，并被鉴定为T-box转录因子家族的成员。TBX 5的无义突变导致一个家族的受影响成员的Holt-Gram综合征;在另一个受影响的成员中鉴定了TBX 5错义突变，我们的结论是，TBX 5是肢体和心脏发育的关键，并建议TBX 5的单倍不足导致Holt-Gram综合征。
Holt-Gram syndrome is characterized by upper limb malformations and cardiac septation defects, Here, we demonstrate that mutations in the human TBX5 gene underlie this disorder. TBX5 was cloned from the disease locus on human chromosome 12q24.1 and identified as a member of the T-box transcription factor family, A nonsense mutation in TBX5 causes Holt-Gram syndrome in affected members of one family; a TBX5 missense mutation was identified in affected members of another, We conclude that TBX5 is critical for limb and heart development and suggest that haploinsufficiency of TBX5 causes Holt-Gram syndrome.