PMID- 29596833
OWN - NLM
STAT- MEDLINE
DCOM- 20181009
LR  - 20181009
IS  - 1090-2104 (Electronic)
IS  - 0006-291X (Linking)
VI  - 499
IP  - 3
DP  - 2018 May 15
TI  - A novel TBX1 missense mutation in patients with syndromic congenital heart 
      defects.
PG  - 563-569
LID - S0006-291X(18)30712-5 [pii]
LID - 10.1016/j.bbrc.2018.03.190 [doi]
AB  - Congenital heart defects represent a characteristic part of several genetic 
      syndromes associated with chromosomal abnormalities such as 22q11.2 deletion 
      syndrome; many genes located in this locus, mainly TBX1, are candidate genes for 
      congenital heart defects. In our cohort of 27 subjects with congenital heart 
      defect, both karyotype analysis and Fluorescence in situ hybridization (FISH) 
      were performed. The TBX1 gene was sequenced in patients lacking chromosomal 
      abnormalities. FISH analysis showed a de novo 22q11.2 deletion in two patients. 
      The screening of TBX1 coding sequence identified a novel missense mutation 
      c.569C > A (p.P190Q) in six unrelated patients and detected two associated known 
      single nucleotide polymorphisms; the c.664C > T (rs2301558) in three patients and 
      the c.420T > C (p.Phe140 Phe) (rs41298814) in one patient. Bioinformatic tools 
      show that the novel missense mutation c.569C > A could modify the function and 
      the stability of the TBX1 protein. The c.569C > A mutation was not found in 50 
      healthy controls. Ours results suggest a deleterious role of the c.569C > A 
      mutation and strengthen the hypothesis that this mutation might be responsible 
      for the same phenotype spectrum as the 22q11.2 deletion syndrome.
CI  - Copyright (c) 2018 Elsevier Inc. All rights reserved.
FAU - Jaouadi, Amel
AU  - Jaouadi A
AD  - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. 
      Electronic address: amel.jaouadi@live.fr.
FAU - Tabebi, Mouna
AU  - Tabebi M
AD  - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
FAU - Abdelhedi, Fatma
AU  - Abdelhedi F
AD  - Department of Medical Genetics, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Abid, Dorra
AU  - Abid D
AD  - Department of Cardiology, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Kamoun, Fatma
AU  - Kamoun F
AD  - Department of Child Neurology, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Chabchoub, Imen
AU  - Chabchoub I
AD  - Department of Pediatrics, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Maatoug, Sirine
AU  - Maatoug S
AD  - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
FAU - Doukali, Hajer
AU  - Doukali H
AD  - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
FAU - Belghuith, Neila
AU  - Belghuith N
AD  - Department of Medical Genetics, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Ksentini, Mohamed Ali
AU  - Ksentini MA
AD  - Private Laboratory Ksentini, Sfax, Tunisia.
FAU - Keskes, Leila Ammar
AU  - Keskes LA
AD  - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia.
FAU - Triki, Chahnez
AU  - Triki C
AD  - Department of Child Neurology, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Hachicha, Mongia
AU  - Hachicha M
AD  - Department of Pediatrics, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Kamoun, Samir
AU  - Kamoun S
AD  - Department of Cardiology, CHU Hedi Chaker Hospital, Sfax, Tunisia.
FAU - Kamoun, Hassen
AU  - Kamoun H
AD  - Laboratory of Human Molecular Genetics, Faculty of Medicine, Sfax, Tunisia. 
      Electronic address: hassen.kamoun@yahoo.fr.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20180328
PL  - United States
TA  - Biochem Biophys Res Commun
JT  - Biochemical and biophysical research communications
JID - 0372516
RN  - 0 (T-Box Domain Proteins)
RN  - 0 (TBX1 protein, human)
SB  - IM
MH  - Amino Acid Sequence
MH  - Base Sequence
MH  - Chromosomes, Human, Pair 22/genetics
MH  - Computer Simulation
MH  - DNA Mutational Analysis
MH  - Heart Defects, Congenital/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Models, Molecular
MH  - Mutation, Missense/*genetics
MH  - Syndrome
MH  - T-Box Domain Proteins/chemistry/*genetics
OTO - NOTNLM
OT  - 22q11.2deletion syndrome
OT  - Congenital heart defect (CHD)
OT  - FISH
OT  - Quantitative PCR
OT  - TBX1 gene
OT  - c.569C>A
EDAT- 2018/03/30 06:00
MHDA- 2018/10/10 06:00
CRDT- 2018/03/30 06:00
PHST- 2018/03/09 00:00 [received]
PHST- 2018/03/25 00:00 [accepted]
PHST- 2018/03/30 06:00 [pubmed]
PHST- 2018/10/10 06:00 [medline]
PHST- 2018/03/30 06:00 [entrez]
AID - S0006-291X(18)30712-5 [pii]
AID - 10.1016/j.bbrc.2018.03.190 [doi]
PST - ppublish
SO  - Biochem Biophys Res Commun. 2018 May 15;499(3):563-569. doi: 
      10.1016/j.bbrc.2018.03.190. Epub 2018 Mar 28.