Reports of Biochemistry and Molecular Biology
rbmb.net
Basic Sciences
http://rbmb.net
1
admin
2322-3480
2322-3480
10.61882/rbmb
en
jalali
1392
7
1
gregorian
2013
10
1
2
1
online
1
fulltext
en
A genetic Assay of Three Patients in the Same Family with Holt-Oram Syndrome; a Case Report
زیست شناسی ملکولی
Molecular Biology
<p>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.</p>
Congenital heart malformation, Holt-Oram syndrome, TBX5 gene
52
55
http://rbmb.net/browse.php?a_code=A-10-1-21&slc_lang=en&sid=1
Reza
Ebrahimzadeh-Vesal
10031947532846005973
10031947532846005973
No
Department of Medical Genetics, Medical Sciences, University of Tehran, Iran
Seyed kianush
Hosseini
10031947532846005974
10031947532846005974
No
Tehran Heart Center, Medical Sciences, University of Tehran, Iran
Fereshteh
Rezakhanlu
10031947532846005975
10031947532846005975
No
Tehran Heart Center, Medical Sciences, University of Tehran, Iran
Pupak
Derakhshandeh-Peykar
derakhshandeh@mgz-muenchen.de
10031947532846005976
10031947532846005976
Yes
Department of Medical Genetics, Medical Sciences, University of Tehran, Iran - Medizinisch Genetisches Zentrum (MGZ), Munich, Germany