当前位置： SCI文献检索 > European Journal of Medical Genetics期刊下所有文献 > Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5.

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Kannu P,Campos-Xavier AB,Hull D,Martinet D,Ballhausen D,Bonafé L

doi

10.1016/j.ejmg.2013.06.001

subject

Has Abstract

pub_date

2013-08-01 00:00:00

pages

452-7

issue

8

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(13)00129-8

journal_volume

56

pub_type

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