Mutation screening and association analysis of six candidate genes for autism on chromosome 7q

被引：51

作者：

Bonora, E

Lamb, JA

Barnby, G

Sykes, N

Moberly, T

Beyer, KS

Klauck, SM

Poustka, F

Bacchelli, E

Blasi, F

Maestrini, E

Battaglia, A

Haracopos, D

Pedersen, L

Isager, T

Eriksen, G

Viskum, B

Sorensen, EU

Brondum-Nielsen, K

Cotterill, R

von Engeland, H

de Jonge, M

Kemner, C

Steggehuis, K

Scherpenisse, M

Rutter, M

Bolton, PF

Parr, JR

Poustka, A

Bailey, AJ

Monaco, AP

机构：

[1] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England

[2] Deutsch Krebsforschungszentrum, Dept Mol Genome Anal, D-6900 Heidelberg, Germany

[3] Goethe Univ Frankfurt, Dept Child & Adolescent Psychiat, D-6000 Frankfurt, Germany

[4] Univ Bologna, Diparitmento Biol Evoluz Sperimentale, Bologna, Italy

[5] Univ Bologna, Policlin S Orsola Malpighi, Med Genet Lab, Bologna, Italy

[6] Stella Maris Clin Res Inst Child & Adolescent Neu, Calambrone, Italy

[7] Vidensctr Ctr Autisme, Virum, Denmark

[8] Borne Ungdomspsykiatrisk Hosp, Risskov, Denmark

[9] John F Kennedy Inst, DK-2600 Glostrup, Denmark

[10] Danish Tech Univ, Biophys Grp, Lyngby, Denmark

[11] Dept Child & Adolescent Psychiat, Utrecht, Netherlands

[12] Inst Psychiat, Ctr Social Genet & Dev Psychiat, London, England

[13] Inst Psychiat, Dept Child & Adolescent Psychiat, London, England

[14] Pk Hosp Children, Sect Child & Adolescent Psychiat, Oxford, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2005年 / 13卷 / 02期

关键词：

autism; candidate genes; brain development; mutation screening; linkage disequilibrium; transmission disequilibrium;

D O I：

10.1038/sj.ejhg.5201315

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Genetic studies have provided evidence for an autism susceptibility locus (AUTS1) on chromosome 7q. Screening for mutations in six genes mapping to 7q, CUTL1, SRPK2, SYPL, LAMB1, NRCAM and PTPRZ1 in 48 unrelated individuals with autism led to the identification of several new coding variants in the genes CUTL1, LAMB1 and PTPRZ1. Analysis of genetic variants provided evidence for association with autism for one of the new missense changes identified in LAMB1; this effect was stronger in a subgroup of affected male sibling pair families, implying a possible specific sex-related effect for this variant. Association was also detected for several polymorphisms in the promoter and untranslated region of NRCAM, suggesting that alterations in expression of this gene may be linked to autism susceptibility.

引用

页码：198 / 207

页数：10

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[1] Merlin-rapid analysis of dense genetic maps using sparse gene flow trees [J].