Universität zu Köln

Elalaoui, Siham Chafai, Fejjal, Nawfal, Li, Yun, Thiele, Holger, Altmueller, Janine, Guaoua, Soukaina, Nuernberg, Peter, Wollnik, Bernd ORCID: 0000-0003-2589-0364, Sefiani, Abdelaziz and Ratbi, Ilham (2021). Homozygous nonsense mutation of WNT10B gene in a Moroccan family with split-hand foot malformation identified by exome sequencing: a case report. Pan Afr. Med. J., 39. KAMPALA: AFRICAN FIELD EPIDEMIOLOGY NETWORK-AFENET. ISSN 1937-8688

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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 mutations in 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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Elalaoui, Siham Chafai UNSPECIFIED UNSPECIFIED UNSPECIFIED Fejjal, Nawfal UNSPECIFIED UNSPECIFIED UNSPECIFIED Li, Yun UNSPECIFIED UNSPECIFIED UNSPECIFIED Thiele, Holger UNSPECIFIED UNSPECIFIED UNSPECIFIED Altmueller, Janine UNSPECIFIED UNSPECIFIED UNSPECIFIED Guaoua, Soukaina UNSPECIFIED UNSPECIFIED UNSPECIFIED Nuernberg, Peter UNSPECIFIED UNSPECIFIED UNSPECIFIED Wollnik, Bernd UNSPECIFIED orcid.org/0000-0003-2589-0364 UNSPECIFIED Sefiani, Abdelaziz UNSPECIFIED UNSPECIFIED UNSPECIFIED Ratbi, Ilham UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-583161
DOI:	10.11604/pamj.2021.39.21.26176
Journal or Publication Title:	Pan Afr. Med. J.
Volume:	39
Date:	2021
Publisher:	AFRICAN FIELD EPIDEMIOLOGY NETWORK-AFENET
Place of Publication:	KAMPALA
ISSN:	1937-8688
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language HAND/FOOT MALFORMATION; INHERITANCE; LOCUS; SHFM Multiple languages Public, Environmental & Occupational Health Multiple languages
URI:	http://kups.ub.uni-koeln.de/id/eprint/58316