title: Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.
abstract: 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.
authors.affiliation: Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario Canada. peter.kannu@sickkids.ca
authors.forename: P
authors.initials: P
authors.lastname: Kannu
authors.forename: A B
authors.initials: AB
authors.lastname: Campos-Xavier
authors.forename: D
authors.initials: D
authors.lastname: Hull
authors.forename: D
authors.initials: D
authors.lastname: Martinet
authors.forename: D
authors.initials: D
authors.lastname: Ballhausen
authors.forename: L
authors.initials: L
authors.lastname: Bonafé
mesh_terms: D000328:Adult; D058674:Chromosome Duplication; D002882:Chromosomes, Human, Pair 13; D055028:Comparative Genomic Hybridization; D019066:Facies; D005260:Female; D053673:Glypicans / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D010641:Phenotype; D017689:Polydactyly / Q000175:diagnosis* / Q000235:genetics*; D019655:Quantitative Trait, Heritable; D062085:RNA, Long Noncoding
chemical_list: C106228:GPC5 protein, human; D053673:Glypicans; C568997:MIR17HG, human; D035683:MicroRNAs; D062085:RNA, Long Noncoding
keywords: Autism; Mental health; Polydactyly