title: A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report.
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.
authors.affiliation: Department of Medical Genetics, Medical Sciences, University of Tehran, Iran.
authors.forename: Reza
authors.initials: R
authors.lastname: Ebrahimzadeh-Vesal
authors.affiliation: Tehran Heart Center, Medical Sciences, University of Tehran, Iran.
authors.forename: Seyed Kianush
authors.initials: SK
authors.lastname: Hosseini
authors.affiliation: Tehran Heart Center, Medical Sciences, University of Tehran, Iran.
authors.forename: Fereshteh
authors.initials: F
authors.lastname: Rezakhanlu
authors.affiliation: Department of Medical Genetics, Medical Sciences, University of Tehran, Iran ; Medizinisch Genetisches Zentrum (MGZ), Munich, Germany.
authors.forename: Pupak
authors.initials: P
authors.lastname: Derakhshandeh-Peykar
keywords: Congenital heart malformation; Holt-Oram syndrome; TBX5 gene