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

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

Lady J Ríos-Serna,1 Lorena Díaz-Ordoñez,1 Estephania Candelo,1,2 Harry Pachajoa1,3 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia; 2Biomaterial and Tiss...

وصف كامل

التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H
التنسيق: مقال
اللغة:English
منشور في: Dove Medical Press 2018-11-01
سلاسل:The Application of Clinical Genetics
الموضوعات:
Holt–Oram syndrome
hand-heart syndrome
de novo mutation
TBX5
الوصول للمادة أونلاين:https://www.dovepress.com/a-novel-de-novo-tbx5nbspmutation-in-a-patient-with-holtndashoram-syndr-peer-reviewed-article-TACG
الوصف
الملخص:Lady J Ríos-Serna,1 Lorena Díaz-Ordoñez,1 Estephania Candelo,1,2 Harry Pachajoa1,3 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del Cauca, Colombia; 2Biomaterial and Tissues Engineering and Genetic of Human Diseases, University College London, London, UK; 3Fundación Valle del Lili, Cali, Valle del Cauca, Colombia Abstract: 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. Keywords: Holt-Oram syndrome, heart-hand syndrome, de novo mutation, TBX5.i>
تدمد:1178-704X

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