Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-...
Ausführliche Beschreibung
Autor*in: |
Siham Chafai Elalaoui [verfasserIn] Nawfal Fejjal3, Yun Li [verfasserIn] Holger Thiele [verfasserIn] Janine Altmüller [verfasserIn] Soukaina Guaoua [verfasserIn] Peter Nürnberg [verfasserIn] Bernd Wollnik [verfasserIn] Abdelaziz Sefiani [verfasserIn] Ilham Ratbi [verfasserIn] |
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Format: |
E-Artikel |
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Sprache: |
Englisch ; Französisch |
Erschienen: |
2021 |
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Schlagwörter: |
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Übergeordnetes Werk: |
In: The Pan African Medical Journal ; 39(2021), 21 volume:39 ; year:2021 ; number:21 |
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Link aufrufen |
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DOI / URN: |
10.11604/pamj.2021.39.21.26176 |
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Katalog-ID: |
DOAJ035499559 |
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520 | |a Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17 % of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutationsin WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115*of WNT10B gene retaining thereby the diagnosis of SHFM6.This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities. | ||
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The Pan African Medical Journal |
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Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report |
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Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report |
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Siham Chafai Elalaoui |
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The Pan African Medical Journal |
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Siham Chafai Elalaoui Nawfal Fejjal3, Yun Li Holger Thiele Janine Altmüller Soukaina Guaoua Peter Nürnberg Bernd Wollnik Abdelaziz Sefiani Ilham Ratbi |
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Elektronische Aufsätze |
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Siham Chafai Elalaoui |
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10.11604/pamj.2021.39.21.26176 |
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verfasserin |
title_sort |
homozygous nonsense mutation of wtn10b gene in a moroccan family with split-hand foot malformation identified by exome sequencing: a case report |
title_auth |
Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report |
abstract |
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17 % of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutationsin WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115*of WNT10B gene retaining thereby the diagnosis of SHFM6.This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities. |
abstractGer |
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17 % of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutationsin WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115*of WNT10B gene retaining thereby the diagnosis of SHFM6.This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities. |
abstract_unstemmed |
Split-hand foot malformation (SHFM) is a clinically heterogeneous congenital limb defect affecting predominantly the central rays of hands and/or feet. The clinical expression varies in severity between patients as well between the limbs in the same individual. SHFM might be non-syndromic with limb-confined manifestations or syndromic with extra-limb manifestations. Isolated SHFM is a rare condition with an incidence of about 1 per 18,000 live born infants and accounts for 8-17 % of all limb malformations. To date, many chromosomal loci and genes have been described as associated with isolated SHFM, i.e., SHFM1 to 6. SHFM6 is one of the rarest forms of SHFM, and is caused by mutationsin WNT10B gene. Less than ten pathogenic variants have been described. We have investigated a large consanguineous Moroccan family with three affected members showing feet malformations with or without split hand malformation phenotypes. Using an exome sequencing approach, we identified a homozygous nonsense variant p.Arg115*of WNT10B gene retaining thereby the diagnosis of SHFM6.This homozygous nonsense mutation identified by exome sequencing in a large family of split hand foot malformation highlights the importance of exome sequencing in genetically heterogeneous entities. |
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21 |
title_short |
Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report |
url |
https://doi.org/10.11604/pamj.2021.39.21.26176 https://doaj.org/article/627971715e194e8eb539a7c87d852bb0 https://www.panafrican-med-journal.com/content/article/39/21/pdf/21.pdf https://doaj.org/toc/1937-8688 |
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Nawfal Fejjal3, Yun Li Holger Thiele Janine Altmüller Soukaina Guaoua Peter Nürnberg Bernd Wollnik Abdelaziz Sefiani Ilham Ratbi |
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Nawfal Fejjal3, Yun Li Holger Thiele Janine Altmüller Soukaina Guaoua Peter Nürnberg Bernd Wollnik Abdelaziz Sefiani Ilham Ratbi |
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2024-07-03T15:20:04.679Z |
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