Literature DB >> 26989721

A genetic assay of three patients in the same family with Holt-Oram syndrome; a case report.

Reza Ebrahimzadeh-Vesal1, Seyed Kianush Hosseini2, Fereshteh Rezakhanlu2, Pupak Derakhshandeh-Peykar3.   

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.

Entities:  

Keywords:  Congenital heart malformation; Holt-Oram syndrome; TBX5 gene

Year:  2013        PMID： 26989721      PMCID： PMC4757068     

Source DB:  PubMed          Journal:  Rep Biochem Mol Biol        ISSN： 2322-3480


  19 in total

1.  Familial heart disease with skeletal malformations.

Authors:  M HOLT; S ORAM
Journal:  Br Heart J       Date:  1960-04

2.  Contiguous hemizygous deletion of TBX5, TBX3, and RBM19 resulting in a combined phenotype of Holt-Oram and ulnar-mammary syndromes.

Authors:  Wiktor Borozdin; Ana M Bravo-Ferrer Acosta; Eva Seemanova; Michael Leipoldt; Michael J Bamshad; Sheila Unger; Jürgen Kohlhase
Journal:  Am J Med Genet A       Date:  2006-09-01       Impact factor: 2.802

Review 3.  [Holt-Oram syndrome].

Authors:  C Elek; M Vitéz; E Czeizel
Journal:  Orv Hetil       Date:  1991-01-13       Impact factor: 0.540

4.  A simple salting out procedure for extracting DNA from human nucleated cells.

Authors:  S A Miller; D D Dykes; H F Polesky
Journal:  Nucleic Acids Res       Date:  1988-02-11       Impact factor: 16.971

5.  Three novel TBX5 mutations in Chinese patients with Holt-Oram syndrome.

Authors:  J Yang; D Hu; J Xia; Y Yang; B Ying; J Hu; X Zhou
Journal:  Am J Med Genet       Date:  2000-06-05

6.  Different TBX5 interactions in heart and limb defined by Holt-Oram syndrome mutations.

Authors:  C T Basson; T Huang; R C Lin; D R Bachinsky; S Weremowicz; A Vaglio; R Bruzzone; R Quadrelli; M Lerone; G Romeo; M Silengo; A Pereira; J Krieger; S F Mesquita; M Kamisago; C C Morton; M E Pierpont; C W Müller; J G Seidman; C E Seidman
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-16       Impact factor: 11.205

7.  Holt-Oram syndrome.

Authors:  A T Smith; G H Sack; G J Taylor
Journal:  J Pediatr       Date:  1979-10       Impact factor: 4.406

8.  GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.

Authors:  Vidu Garg; Irfan S Kathiriya; Robert Barnes; Marie K Schluterman; Isabelle N King; Cheryl A Butler; Caryn R Rothrock; Reenu S Eapen; Kayoko Hirayama-Yamada; Kunitaka Joo; Rumiko Matsuoka; Jonathan C Cohen; Deepak Srivastava
Journal:  Nature       Date:  2003-07-06       Impact factor: 49.962

9.  The T-Box transcription factor Tbx5 is required for the patterning and maturation of the murine cardiac conduction system.

Authors:  Ivan P G Moskowitz; Anne Pizard; Vickas V Patel; Benoit G Bruneau; Jae B Kim; Sabina Kupershmidt; Dan Roden; Charles I Berul; Christine E Seidman; Jonathan G Seidman
Journal:  Development       Date:  2004-08       Impact factor: 6.868

10.  TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.

Authors:  Chirag Patel; Lee Silcock; Dominic McMullan; Louise Brueton; Helen Cox
Journal:  Eur J Hum Genet       Date:  2012-02-15       Impact factor: 4.246
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