Volume 2, Issue 1 (Vol.2 No.1 Oct 2013)                   rbmb.net 2013, 2(1): 52-55 | Back to browse issues page

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Ebrahimzadeh-Vesal R, Hosseini S K, Rezakhanlu F, Derakhshandeh-Peykar P. A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report. rbmb.net 2013; 2 (1) :52-55
URL: http://rbmb.net/article-1-42-en.html
A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report
Reza Ebrahimzadeh-Vesal , Seyed kianush Hosseini , Fereshteh Rezakhanlu , Pupak Derakhshandeh-Peykar *
Department of Medical Genetics, Medical Sciences, University of Tehran, Iran - Medizinisch Genetisches Zentrum (MGZ), Munich, Germany
Abstract:   (5689 Views)

Holt-Oram syndrome (HOS) is a developmental disorder inherited in an autosomal-dominant pattern. Affected organs are the heart and forelimbs with upper extremity skeletal defects and congenital heart malformation. In this study we present three cases of HOS in the same family. In one of these three individuals we detected a transition of C to T (CTG-GTT, V205V) in exon 7 of the TBX5 gene. This nucleotide change causes no amino acid change and potential pathologic effects remain unknown.

Keywords: Congenital heart malformation, Holt-Oram syndrome, TBX5 gene
Full-Text [PDF 244 kb]   (2253 Downloads)    
Subject: Molecular Biology
Received: 2013/05/10 | Accepted: 2013/07/12 | Published: 2013/11/29
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