A TBX5 nonsense mutation in siblings with divergent phenotypes associated with isolated septal defects

Yashvanthi Borkar, Krishnananda Nayak, K. Ranjan Shetty, Rajasekhar Moka

Research output: Contribution to journalArticle

Abstract

Objective: Heart septal defects (HSD) account for 50% of the congenital heart malformations and are characterized by the hole in the wall of tissue which separates the heart chambers. The known causes of the SD are multifactorial and complex inheritance. Methods: Isolated 15 subjects with ostium secundum atrial SD (OS-ASD) and one subject with perimembranous ventricular SD (VSD) among 125 clinically diagnosed SD were included in the study. Sanger sequencing was performed for all the exons of TBX5 genes using genomic DNA of these patients. Results: Sequence variation c.444 G>A substitution, leads to the alteration of tryptophan residue into premature stop codon at codon 148. We observed a divergent phenotype within a family of four, where one sibling and the mother had OS-ASD, another sibling had phenotype of perimembranous VSD, and the father had normal genotype. Conclusion: We believe that this novel sequence variant in TBX5 gene is one of the factors in the SD and may hold a key determining the role of TBX5 gene in the heart development.

Original languageEnglish
Pages (from-to)126-130
Number of pages5
JournalAsian Journal of Pharmaceutical and Clinical Research
Volume10
Issue number9
DOIs
Publication statusPublished - 01-01-2017

Fingerprint

Nonsense Codon
Siblings
Phenotype
Heart Septal Defects
Multifactorial Inheritance
Genes
Congenital Heart Defects
Codon
Tryptophan
Fathers
Exons
Genotype
Mothers
DNA

All Science Journal Classification (ASJC) codes

  • Pharmacology
  • Pharmaceutical Science
  • Pharmacology (medical)

Cite this

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abstract = "Objective: Heart septal defects (HSD) account for 50{\%} of the congenital heart malformations and are characterized by the hole in the wall of tissue which separates the heart chambers. The known causes of the SD are multifactorial and complex inheritance. Methods: Isolated 15 subjects with ostium secundum atrial SD (OS-ASD) and one subject with perimembranous ventricular SD (VSD) among 125 clinically diagnosed SD were included in the study. Sanger sequencing was performed for all the exons of TBX5 genes using genomic DNA of these patients. Results: Sequence variation c.444 G>A substitution, leads to the alteration of tryptophan residue into premature stop codon at codon 148. We observed a divergent phenotype within a family of four, where one sibling and the mother had OS-ASD, another sibling had phenotype of perimembranous VSD, and the father had normal genotype. Conclusion: We believe that this novel sequence variant in TBX5 gene is one of the factors in the SD and may hold a key determining the role of TBX5 gene in the heart development.",
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A TBX5 nonsense mutation in siblings with divergent phenotypes associated with isolated septal defects. / Borkar, Yashvanthi; Nayak, Krishnananda; Ranjan Shetty, K.; Moka, Rajasekhar.

In: Asian Journal of Pharmaceutical and Clinical Research, Vol. 10, No. 9, 01.01.2017, p. 126-130.

Research output: Contribution to journalArticle

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N2 - Objective: Heart septal defects (HSD) account for 50% of the congenital heart malformations and are characterized by the hole in the wall of tissue which separates the heart chambers. The known causes of the SD are multifactorial and complex inheritance. Methods: Isolated 15 subjects with ostium secundum atrial SD (OS-ASD) and one subject with perimembranous ventricular SD (VSD) among 125 clinically diagnosed SD were included in the study. Sanger sequencing was performed for all the exons of TBX5 genes using genomic DNA of these patients. Results: Sequence variation c.444 G>A substitution, leads to the alteration of tryptophan residue into premature stop codon at codon 148. We observed a divergent phenotype within a family of four, where one sibling and the mother had OS-ASD, another sibling had phenotype of perimembranous VSD, and the father had normal genotype. Conclusion: We believe that this novel sequence variant in TBX5 gene is one of the factors in the SD and may hold a key determining the role of TBX5 gene in the heart development.

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