Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Détails
ID Serval
serval:BIB_6F6E1036FB5F
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
Périodique
European Journal of Medical Genetics
ISSN
1878-0849 (Electronic)
ISSN-L
1769-7212
Statut éditorial
Publié
Date de publication
2013
Peer-reviewed
Oui
Volume
56
Numéro
8
Pages
452-457
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Résumé
Genomic rearrangements at chromosome 13q31.3q32.1 have been associated with digital anomalies, dysmorphic features, and variable degree of mental disability. Microdeletions leading to haploinsufficiency of miR17∼92, a cluster of micro RNA genes closely linked to GPC5 in both mouse and human genomes, has recently been associated with digital anomalies in the Feingold like syndrome. Here, we report on a boy with familial dominant post-axial polydactyly (PAP) type A, overgrowth, significant facial dysmorphisms and autistic traits who carries the smallest germline microduplication known so far in that region. The microduplication encompasses the whole miR17∼92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17∼92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development.
Pubmed
Web of science
Création de la notice
24/10/2013 17:59
Dernière modification de la notice
20/08/2019 15:28