Split hand/foot malformation associated ...
Type de document :
Article dans une revue scientifique: Article original
PMID :
URL permanente :
Titre :
Split hand/foot malformation associated with 20p12. 1 deletion: a case report
Auteur(s) :
Ruaud, Lyse [Auteur]
Flottman, Ricarda [Auteur]
Spielmann, Malte [Auteur]
Escande, Fabienne [Auteur]
Van Maldergem, Lionel [Auteur]
Mundlos, Stefan [Auteur]
Piard, Juliette [Auteur]
Flottman, Ricarda [Auteur]
Spielmann, Malte [Auteur]
Escande, Fabienne [Auteur]
Van Maldergem, Lionel [Auteur]
Mundlos, Stefan [Auteur]
Piard, Juliette [Auteur]
Titre de la revue :
European journal of medical genetics
Nom court de la revue :
Eur J Med Genet
Pagination :
103805
Date de publication :
2019-11-04
ISSN :
1878-0849
Mot(s)-clé(s) :
KIF16B
Positional effect
Split hand/foot malformation
20p12.1 deletion
MACROD2
Positional effect
Split hand/foot malformation
20p12.1 deletion
MACROD2
Discipline(s) HAL :
Sciences du Vivant [q-bio]
Résumé en anglais : [en]
Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait ...
Lire la suite >Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated malformations is highly variable and multiple syndromes with clinical and genetic overlap have been described. We report here a 28 year-old man presenting with SHFM, sparse hair and widespread freckles. Array-CGH identified a 450 kb de novo 20p12.1 microdeletion encompassing three exons (exon 6 to 8) of MACROD2. Although MACROD2 mutations have not been associated with limb malformation until now, it is located next to KIF16B, which is involved in fibroblast growth factor receptor (FGFR) signaling. Additionally, the deletion encompassed a histone modification H3K27ac mark, known as a provider of quantitative readout of promoter and enhancer activity during human limb development. Altogether, these findings suggest that the 20p12.1 CNV is causative of SHFM in the present case through disturbance of regulatory elements functioning.Lire moins >
Lire la suite >Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting limb development characterized by clinical and genetic heterogeneity. SHFM is usually inherited as an autosomal dominant trait with incomplete penetrance. Isolated and syndromic forms are described. The extent of associated malformations is highly variable and multiple syndromes with clinical and genetic overlap have been described. We report here a 28 year-old man presenting with SHFM, sparse hair and widespread freckles. Array-CGH identified a 450 kb de novo 20p12.1 microdeletion encompassing three exons (exon 6 to 8) of MACROD2. Although MACROD2 mutations have not been associated with limb malformation until now, it is located next to KIF16B, which is involved in fibroblast growth factor receptor (FGFR) signaling. Additionally, the deletion encompassed a histone modification H3K27ac mark, known as a provider of quantitative readout of promoter and enhancer activity during human limb development. Altogether, these findings suggest that the 20p12.1 CNV is causative of SHFM in the present case through disturbance of regulatory elements functioning.Lire moins >
Langue :
Anglais
Audience :
Internationale
Vulgarisation :
Non
Établissement(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Date de dépôt :
2021-09-02T07:02:25Z