Abstract
Congenital heart diseases are the most frequent birth defects and are commonly associated with skeletal malformations. Mutations in the TBX5 gene, a T-box transcription factor located on chromosome 12q24.1, have been demonstrated to be the underlying molecular alteration in individuals with different congenital cardiac disorders, notably the Holt-Oram syndrome. Six members from a two-generation family from a consanguineous couple, which had atrial septal defects associated with postaxial hexodactyly in all extremities were clinically assessed and submitted to TBX5 mutational analysis performed by direct sequencing. We detected a new TBX5 missense mutation (V263M) in all four individuals studied with cardiac abnormalities. The genotype-phenotype correlations in light of unusual features are extensively discussed, as well as the possible significance of these atypical findings. These new data extend our clinical and molecular knowledge of TBX5 gene mutations and also raise interesting questions about the phenotype heterogeneity regarding these gene alterations.
References
Jul 1, 1990·European Journal of Obstetrics, Gynecology, and Reproductive Biology·P R RamaekersJ P Fryns
Mar 1, 1970·Chest·H C MoguilevskyA B Shaffer
Mar 1, 1995·Circulation·C T BassonL B Holmes
Mar 31, 1994·The New England Journal of Medicine·C T BassonC E Seidman
Sep 1, 1995·Pediatric Cardiology·S E LevinJ du Plessis
Dec 18, 1997·American Journal of Human Genetics·T D HowardE W Jabs
Aug 14, 1998·Pediatric Cardiology·T Onat
Nov 21, 1998·Clinical Dysmorphology·J P FrynsW B Rizzo
Mar 17, 1999·Proceedings of the National Academy of Sciences of the United States of America·C T BassonC E Seidman
Feb 24, 2001·Journal of Medical Genetics·S J CrossC A Gardiner
Sep 14, 2001·Human Molecular Genetics·T K GhoshJ D Brook
Sep 20, 2001·American Journal of Medical Genetics·H PeetersK Devriendt
Oct 10, 2001·Genome Research·E H MarguliesJ W Innis
Dec 25, 2002·The Journal of Biological Chemistry·Chun FanQing Wang
Dec 9, 2003·Development·Malcolm Logan
Jun 29, 2004·Human Mutation·Stella Marie Reamon-Buettner, Juergen Borlak
Sep 1, 2005·Human Mutation·Wolfram HeinritzUrsula G Froster
Sep 27, 2005·Pediatric Research·Deborah A McDermottCraig T Basson
May 13, 2006·American Journal of Medical Genetics. Part a·Cathy J Hatcher, Deborah A McDermott
Jun 6, 2007·Orphanet Journal of Rare Diseases·Geneviève Baujat, Martine Le Merrer
Mar 21, 2008·American Journal of Medical Genetics. Part a·L GaravelliM Gentile
Nov 21, 2012·International Journal of Cardiology·Quentin HauetJean Donadieu
Citations
Jan 29, 2011·Cardiology in the Young·Caio B ViannaMarcelo B Jatene
Oct 27, 2010·Proceedings of the National Academy of Sciences of the United States of America·Mathieu NadeauMona Nemer
Apr 1, 2010·Genetics and Molecular Biology·Marianna P R PortoAna Beatriz A Perez
Oct 26, 2014·Orphanet Journal of Rare Diseases·Ingeborg BarisicHelen Dolk
Aug 8, 2021·Molecular Genetics & Genomic Medicine·Bojian LiRang Xu