Mutation screening and association analysis of six candidate genes for autism on chromosome 7q |
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| Authors: | Bonora Elena,Lamb Janine A,Barnby Gabrielle,Sykes Nuala,Moberly Thomas,Beyer Kim S,Klauck Sabine M,Poustka Firtz,Bacchelli Elena,Blasi Francesca,Maestrini Elena,Battaglia Agatino,Haracopos Demetrios,Pedersen Lennart,Isager Torben,Eriksen Gunna,Viskum Birgitte,Sorensen Ester-Ulsted,Brondum-Nielsen Karen,Cotterill Rodney,Engeland Herman von,Jonge Maretha de,Kemner Chantal,Steggehuis Karlijn,Scherpenisse Margret,Rutter Michael,Bolton Patrick F,Parr Jeremy R,Poustka Annemarie,Bailey Anthony J,Monaco Anthony P International Molecular Genetic Study of Austism Consortium |
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| Affiliation: | The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK. |
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| Abstract: | 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. |
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