Post-axial polydactyly type A2, overgrowth and autistic traits associated with a chromosome 13q31.3 microduplication encompassing miR-17-92 and GPC5

被引：18

作者：

Kannu, P. ^{[1
]}

Campos-Xavier, A. B. ^{[2
]}

Hull, D. ^{[3
]}

Martinet, D. ^{[4
]}

Ballhausen, D. ^{[2
]}

Bonafe, L. ^{[2
]}

机构：

[1] Hosp Sick Children, Div Clin & Metab Genet, Toronto, ON M5G 1X8, Canada

[2] Univ Lausanne Hosp, Div Mol Pediat, CH-1011 Lausanne, Switzerland

[3] Queens Univ, Med Genet Unit, Kingston, ON, Canada

[4] Univ Lausanne Hosp, Med Genet Serv, CH-1011 Lausanne, Switzerland

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2013年 / 56卷 / 08期

基金：

瑞士国家科学基金会; 新加坡国家研究基金会;

关键词：

Autism; Mental health; Polydactyly; ABNORMALITIES; TRISOMY-13; DISORDER; DELETION; LINKAGE; REGION;

D O I：

10.1016/j.ejmg.2013.06.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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 similar to 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 similar to 92 cluster and the first 5 exons of GPC5. This report supports the newly recognized role of miR17 similar to 92 gene dosage in digital developmental anomalies, and suggests a possible role of GPC5 in growth regulation and in cognitive development. (C) 2013 Published by Elsevier Masson SAS.

引用

页码：452 / 457

页数：6