Homozygous nonsense mutation of WTN10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report
| Autor: | Nawfal Fejjal, Yun Li, Bernd Wollnik, Holger Thiele, Soukaina Guaoua, Ilham Ratbi, Janine Altmüller, Peter Nürnberg, Abdelaziz Sefiani, Siham Chafai Elalaoui |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Genetics
WTN10B gene business.industry Foot malformation Genetic heterogeneity media_common.quotation_subject Nonsense Nonsense mutation Homozygous mutation split-hand foot malformation case report General Medicine Phenotype Split-Hand/Foot Malformation Medicine Technology Platforms business Gene Exome sequencing media_common |
| Zdroj: | Pan African Medical Journal; Vol. 39 No. 1 (2021) The Pan African Medical Journal |
| ISSN: | 1937-8688 |
| Popis: | 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 mutations inWNT10Bgene. 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* ofWNT10Bgene 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. |
| Databáze: | OpenAIRE |
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