A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome

被引：5

作者：

Rios-Serna, Lady J. ^{[1
]}

Diaz-Ordonez, Lorena ^{[1
]}

Candelo, Estephania ^{[1
,2
]}

Pachajoa, Harry ^{[1
,3
]}

机构：

[1] Univ Icesi, Dept Basic Med Sci, Ctr Res Congenital Anomalies & Rare Dis CIACER, L Bldg,Calle 18 122-135, Cali 760031, Valle Del Cauca, Colombia

[2] UCL, Biomat & Tissues Engn & Genet Human Dis, London, England

[3] Fdn Valle del Lili, Cali, Valle Del Cauca, Colombia

来源：

APPLICATION OF CLINICAL GENETICS | 2018年 / 11卷

关键词：

Holt-Oram syndrome; heart-hand syndrome; de novo mutation; TBX5;

D O I：

10.2147/TACG.S183418

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Holt-Oram syndrome (HOS) is an autosomal dominant disorder characterized by congenital cardiac defects and congenital deformities of the upper limbs. Herein, we report the case of a 2-year-old patient presenting with clinical diagnostic criteria of HOS with interatrial and interventricular communication associated with hip dysplasia and upper limb reduction composed of radial ray anomaly. A novel de novo, potentially pathogenic variant in the TBX5 gene at NM_181486.2:c.243-1G>C was identified.

引用

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页码：157 / 162

页数：6

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