Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD)
Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricu...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2017-10-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/1041 |
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| author | Ihssane El-Bouchikhi Khadija Belhassan Fatima Zohra Moufid Mohammed Iraqui Houssaini Karim Ouldim Samir Atmani |
| author_facet | Ihssane El-Bouchikhi Khadija Belhassan Fatima Zohra Moufid Mohammed Iraqui Houssaini Karim Ouldim Samir Atmani |
| author_sort | Ihssane El-Bouchikhi |
| collection | DOAJ |
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Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular features of a Moroccan boy that carries a novel NK2 homeobox 5 (NKX2-5) germline mutation (Pro141Ala), and exhibits a transitional atrio-ventricular septal defect. This phenotype has never been reported in association with NKX2-5 germline mutations. Pro141Ala is a non-reported pathogenic mutation that alters the nuclear localization signal sequence, leading to disruption of NKX2-5 nuclear translocation mechanism. Such alteration would decrease nuclear transcriptional activity of NKX2-5 and impair cardiogenesis process. The present report comes to widen the phenotypic spectrum of congenital heart disease caused by NKX2-5 germline mutations, and highlights as well the importance of the nuclear localization system in NKX2-5 activity.
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| format | Article |
| id | doaj-art-98613a5e282e4bc1886fe28114312b0d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2017-10-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-98613a5e282e4bc1886fe28114312b0d2025-08-20T02:01:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212017-10-0159510.24953/turkjped.2017.05.019Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD)Ihssane El-BouchikhiKhadija Belhassan0Fatima Zohra MoufidMohammed Iraqui Houssaini1Karim Ouldim2Samir Atmani3Medical Genetics and Oncogenetics Laboratory, Hassan II University Hospital, Fez, Morocco.Laboratory of Microbial Biotechnology, Faculty of Sciences and Techniques, University of Sidi Mohammed Ben Abdellah, Fez, Morocco.Medical Genetics and Oncogenetics Laboratory, Hassan II University Hospital, Fez, Morocco.Medico-Surgical Unit of Cardio-pediatrics, Department of Pediatrics, Hassan II University Hospital, Fez, Morocco. Atrioventricular septal defect is a complex congenital heart defects (CHD) with a prevalence of approximately 4% of all CHDs. Transitional form of atrio-ventricular septal defect (tAVSD) associates ostium primum atrial septal defect, common atrioventricular annulus with distinct atrioventricular valvar orifices in addition of restrictive ventricular septal defect. We describe in this report clinical and molecular features of a Moroccan boy that carries a novel NK2 homeobox 5 (NKX2-5) germline mutation (Pro141Ala), and exhibits a transitional atrio-ventricular septal defect. This phenotype has never been reported in association with NKX2-5 germline mutations. Pro141Ala is a non-reported pathogenic mutation that alters the nuclear localization signal sequence, leading to disruption of NKX2-5 nuclear translocation mechanism. Such alteration would decrease nuclear transcriptional activity of NKX2-5 and impair cardiogenesis process. The present report comes to widen the phenotypic spectrum of congenital heart disease caused by NKX2-5 germline mutations, and highlights as well the importance of the nuclear localization system in NKX2-5 activity. https://turkjpediatr.org/article/view/1041NKX2-5atrio-ventricular septal defect (AVSD)nuclear localization site (NLS) |
| spellingShingle | Ihssane El-Bouchikhi Khadija Belhassan Fatima Zohra Moufid Mohammed Iraqui Houssaini Karim Ouldim Samir Atmani Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD) The Turkish Journal of Pediatrics NKX2-5 atrio-ventricular septal defect (AVSD) nuclear localization site (NLS) |
| title | Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD) |
| title_full | Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD) |
| title_fullStr | Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD) |
| title_full_unstemmed | Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD) |
| title_short | Novel NKX2-5 germline mutation in a Moroccan child with transitional atrio-ventricular septal defect (tAVSD) |
| title_sort | novel nkx2 5 germline mutation in a moroccan child with transitional atrio ventricular septal defect tavsd |
| topic | NKX2-5 atrio-ventricular septal defect (AVSD) nuclear localization site (NLS) |
| url | https://turkjpediatr.org/article/view/1041 |
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