| Literature DB >> 15523497 |
Elena Bonora1, Janine A Lamb, Gabrielle Barnby, Nuala Sykes, Thomas Moberly, Kim S Beyer, Sabine M Klauck, Firtz Poustka, Elena Bacchelli, Francesca Blasi, Elena Maestrini, Agatino Battaglia, Demetrios Haracopos, Lennart Pedersen, Torben Isager, Gunna Eriksen, Birgitte Viskum, Ester-Ulsted Sorensen, Karen Brondum-Nielsen, Rodney Cotterill, Herman von Engeland, Maretha de Jonge, Chantal Kemner, Karlijn Steggehuis, Margret Scherpenisse, Michael Rutter, Patrick F Bolton, Jeremy R Parr, Annemarie Poustka, Anthony J Bailey, Anthony P Monaco.
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.Entities:
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Year: 2005 PMID： 15523497 DOI： 10.1038/sj.ejhg.5201315
Source DB: PubMed Journal: Eur J Hum Genet ISSN： 1018-4813 Impact factor: 4.246