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
Gespeichert in:
| 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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| Links: |
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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10.11604/pamj.2021.39.21.26176 doi (DE-627)DOAJ035499559 (DE-599)DOAJ627971715e194e8eb539a7c87d852bb0 DE-627 ger DE-627 rakwb eng fre Siham Chafai Elalaoui verfasserin aut Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report 2021 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier 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. homozygous mutation wtn10b gene split-hand foot malformation case report Medicine R Nawfal Fejjal3, Yun Li verfasserin aut Holger Thiele verfasserin aut Janine Altmüller verfasserin aut Soukaina Guaoua verfasserin aut Peter Nürnberg verfasserin aut Bernd Wollnik verfasserin aut Abdelaziz Sefiani verfasserin aut Ilham Ratbi verfasserin aut In The Pan African Medical Journal 39(2021), 21 volume:39 year:2021 number:21 https://doi.org/10.11604/pamj.2021.39.21.26176 kostenfrei https://doaj.org/article/627971715e194e8eb539a7c87d852bb0 kostenfrei https://www.panafrican-med-journal.com/content/article/39/21/pdf/21.pdf kostenfrei https://doaj.org/toc/1937-8688 Journal toc kostenfrei https://doaj.org/toc/1937-8688 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ AR 39 2021 21 |
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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 homozygous mutation wtn10b gene split-hand foot malformation 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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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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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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Siham Chafai Elalaoui |
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10.11604/pamj.2021.39.21.26176 |
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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 |
| 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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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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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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