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

Publication: Research - peer-reviewJournal article – Annual report year: 2005

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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.
Original languageEnglish
JournalEuropean Journal of Human Genetics
Publication date2005
Volume13
Journal number2
Pages198-207
ISSN1018-4813
StatePublished

Keywords

  • transmission disequilibrium, linkage disequilibrium, candidate genes, mutation screening, autism, brain development
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