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Investigation of TBX1 gene deletion in Iranian children with 22q11.2 deletion syndrome: correlation with conotruncal heart defects
  1. Hamid Ganji1,2,
  2. Mansoor Salehi2,3,
  3. Maryam Sedghi1,2,
  4. Hossein Abdali4,
  5. Nayereh Nouri1,2,
  6. Leyli Sadri5,
  7. Majid Hosseinzadeh2,
  8. Bahareh Vakili2,
  9. Mahdi Lotfi4
  1. 1Pediatric Inherited Disease Research Center (PIDRC), Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2Molecular Genetics Laboratory, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  3. 3Division of Genetics and Molecular Biology, Medical School, Isfahan University of Medical Sciences, Isfahan, Iran
  4. 4Department of Plastic and Reconstructive Surgery, Alzahra University Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5Students’ Research Center, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran
  1. Correspondence to Nayereh Nouri, Pediatric Inherited Disease Research Center (PIDRC), Isfahan University of Medical Sciences, Isfahan 8174673461, Iran; n_nouri{at}azh.mui.ac.ir

Abstract

Background DiGeorge syndrome (DGS) is the result of a microdeletion in chromosome 22q11.2 in over 90% of cases. DGS is the second most frequent syndrome after Down syndrome and has an incidence of 1/4000 births. Unequal crossover between low-copy repeats, on the proximal part of the long arm of chromosome 22, usually results in a 3 Mb deletion in one of the chromosome 22 and a reciprocal and similarly sized duplication on the other one. Several studies have indicated that TBX1 (T-box 1) haploinsufficiency is responsible for many of the phenotypic traits of 22q11.2 deletion syndrome. Conotruncal heart defects (CTDs) are present in 75–85% of patients with 22q11.2 deletion syndrome in Western countries.

Methods Among 78 patients fulfilling the criteria for DGS diagnosed by the fluorescence in situ hybridisation test, 24 had 22q11.2 deletion. Screening for TBX1 gene deletion was performed by multiplex ligation-dependent probe amplification (MLPA).

Results Our results revealed that of 24 patients with TBX1 gene deletion, 12 had CTDs while 12 did not show any heart defects.

Conclusions Our findings indicate that other genes or gene interactions may play a role in penetrance or the severity of heart disease among patients with DGS.

  • Cardiac Function
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