Rare De Novo and Transmitted Copy-Number Variation in Autistic Spectrum Disorders

被引：513

作者：

Levy, Dan

Ronennus, Michael

Yamrom, Boris

Lee, Yoon-Ha

Leotta, Anthony

Kendall, Jude

Marks, Steven

Lakshmi, B.

Pai, Deepa

Ye, Kenny ^{[1
]}

Buja, Andreas ^{[2
]}

Krieger, Abba ^{[2
]}

Yoon, Seungtai

Troge, Jennifer

Rodgers, Linda

Lossifov, Ivan

Wigler, Michael

机构：

[1] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10461 USA

[2] Univ Penn, Wharton Sch, Dept Stat, Philadelphia, PA 19104 USA

来源：

NEURON | 2011年 / 70卷 / 05期

关键词：

RECURRENT MICRODELETIONS; ASSOCIATION; MUTATIONS; VARIANTS; MICRODUPLICATION; IDENTIFICATION; PREDISPOSE; EXPRESSION; DELETIONS; 15Q11.2;

D O I：

10.1016/j.neuron.2011.05.015

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

To explore the genetic contribution to autistic spectrum disorders (ASDs), we have studied genomic copy-number variation in a large cohort of families with a single affected child and at least one unaffected sibling. We confirm a major contribution from de novo deletions and duplications but also find evidence of a role for inherited "ultrarare" duplications. Our results show that, relative to males, females have greater resistance to autism from genetic causes, which raises the question of the fate of female carriers. By analysis of the proportion and number of recurrent loci, we set a lower bound for distinct target loci at several hundred. We find many new candidate regions, adding substantially to the list of potential gene targets, and confirm several loci previously observed. The functions of the genes in the regions of de novo variation point to a great diversity of genetic causes but also suggest functional convergence.

引用

页码：886 / 897

页数：12

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