A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report |
| |
| Authors: | Reza Ebrahimzadeh-Vesal Seyed kianush Hosseini Fereshteh Rezakhanlu Pupak Derakhshandeh-Peykar |
| |
| Institution: | 1.Department of Medical Genetics, Medical Sciences, University of Tehran, Iran ;2.Tehran Heart Center, Medical Sciences, University of Tehran, Iran ;3.Medizinisch Genetisches Zentrum (MGZ), Munich, Germany |
| |
| Abstract: | 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.Key Words: Holt-Oram syndrome, Congenital heart malformation, TBX5 gene |
| |
| Keywords: | |
|
|
