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Cited by 4Congenital heart defects researchCongenital Heart Disease StudiesCardiac electrophysiology and arrhythmias

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Screening of NKX2.5 gene in Moroccan Tetralogy of Fallot (TOF) patients: worldwide mutation rate comparisons show a significant association between R25C variant and TOF phenotype

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EL Bouchikhi, Ihssane, Belhassan, Khadija, Moufid, Fatima Zohra, Bouguenouch, Laila, Samri, Imane, Iraqui Houssaïni, Mohammed, Ouldim, Karim, Atmani, Samir·2021·Egyptian Journal of Medical Human Genetics
DOI 10.1186/s43042-021-00136-1
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Abstract

Background: Tetralogy of Fallot is the most prevalent cyanotic congenital heart disease, occurring in 1/3 600 live births. This disorder comprises ventricular septal defect, right ventricular outflow obstruction, over-riding aorta, and right ventricular hypertrophy. The present study aims to reveal the spectrum of Nk2 homeobox 5 (NKX2-5) variants identified in a Moroccan non-syndromic tetralogy of Fallot cohort and to compare mutation rate with different studies from all over the world. Thirty-one patients with non-syndromic tetralogy of Fallot were recruited in this cross-sectional study. DNAs were extracted, and coding regions of NKX2.5 were PCR-amplified and sequenced. The obtained sequences were analyzed using different bioinformatics tools. Statistical comparisons were carried out using the R software. Results: R25C mutation was found in two patients, in association with the E21E variant. The latter variant was frequently observed in the population and seems to have a potential altering effect on the splicing process. The NKX2.5 mutation rate in our tetralogy of Fallot population is around 6.4%, and no significant difference was noticed in comparison with previous studies. At the same time, a comparison of R25C mutation rate between atrial septal defect and tetralogy of Fallot worldwide populations shows a particular association of R25C mutation with tetralogy of Fallot phenotype. Conclusions: This study reveals a consistency between our NKX2.5 mutation rate and those of different tetralogy of Fallot populations around the world. Our findings suggest a possible combined effect of R25C mutation and E21E variant on the carriers and emphasize particularly the significant association of R25C mutation with tetralogy of Fallot, which highlights the importance of an anticipative screening for TOF phenotype among the carriers’ offspring at the perinatal period.

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  • New NKX2.5 variants R25C and E21E were discovered in a Moroccan cohort with non-syndromic TOF.

    “Recently, new NKX2.5 variants were discovered in a Moroccan cohort with non-syndromic TOF; a missense variant R25C and a synonymous variant E21E (EL Bouchikhi et al., 2021).”

    From Genetic insights into non-syndromic Tetralogy of Fallot (2022) · cites this paper as EL Bouchikhi et al., 2021

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Metadata

Authors
EL Bouchikhi, I., Belhassan, K., Moufid, F. Z., Bouguenouch, L., Samri, I., Iraqui Houssaïni, M., Ouldim, K., & Atmani, S.
Affiliations
Centre Hospitalier Universitaire Hassan II (MA)
ORCID
Venue
Egyptian Journal of Medical Human Genetics
Publisher
Springer Science and Business Media LLC
Published
2021-03-11
Volume
22
Issue
1
ISSN
  • 1110-8630 (ISSN-L)
  • 2090-2441
DOI
10.1186/s43042-021-00136-1
OpenAlex
W3164440397
Cited by
4
References
0
Citations by year
2025: 1 · 2024: 1 · 2022: 2
FWCI
0.24
Type
journal article
Language
en
Open access
Licence
Locations
  • Egyptian Journal of Medical Human Genetics (publishedVersion, cc-by)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Greater South Information System
Funders
  • Hassan II University Hospital of Fez
  • Faculty of Medicine and Pharmacy of Fez
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
  • Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Keywords
tetralogy of Fallot, Nkx2.5, mutation rate, congenital heart disease, splicing, atrial septal defect, prenatal screening, Moroccan population

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