Split hand/foot malformation associated ...
Document type :
Article dans une revue scientifique: Article original
PMID :
Permalink :
Title :
Split hand/foot malformation associated with 20p12. 1 deletion: a case report
Author(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]
Journal title :
European journal of medical genetics
Abbreviated title :
Eur J Med Genet
Pages :
103805
Publication date :
2019-11-04
ISSN :
1878-0849
Keyword(s) :
KIF16B
Positional effect
Split hand/foot malformation
20p12.1 deletion
MACROD2
Positional effect
Split hand/foot malformation
20p12.1 deletion
MACROD2
HAL domain(s) :
Sciences du Vivant [q-bio]
English abstract : [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 ...
Show more >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.Show less >
Show more >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.Show less >
Language :
Anglais
Audience :
Internationale
Popular science :
Non
Administrative institution(s) :
CHU Lille
Inserm
Université de Lille
Inserm
Université de Lille
Collections :
Submission date :
2021-09-02T07:02:25Z