title: Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
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.
authors.affiliation: The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
authors.forename: Elena
authors.initials: E
authors.lastname: Bonora
authors.forename: Janine A
authors.initials: JA
authors.lastname: Lamb
authors.forename: Gabrielle
authors.initials: G
authors.lastname: Barnby
authors.forename: Nuala
authors.initials: N
authors.lastname: Sykes
authors.forename: Thomas
authors.initials: T
authors.lastname: Moberly
authors.forename: Kim S
authors.initials: KS
authors.lastname: Beyer
authors.forename: Sabine M
authors.initials: SM
authors.lastname: Klauck
authors.forename: Firtz
authors.initials: F
authors.lastname: Poustka
authors.forename: Elena
authors.initials: E
authors.lastname: Bacchelli
authors.forename: Francesca
authors.initials: F
authors.lastname: Blasi
authors.forename: Elena
authors.initials: E
authors.lastname: Maestrini
authors.forename: Agatino
authors.initials: A
authors.lastname: Battaglia
authors.forename: Demetrios
authors.initials: D
authors.lastname: Haracopos
authors.forename: Lennart
authors.initials: L
authors.lastname: Pedersen
authors.forename: Torben
authors.initials: T
authors.lastname: Isager
authors.forename: Gunna
authors.initials: G
authors.lastname: Eriksen
authors.forename: Birgitte
authors.initials: B
authors.lastname: Viskum
authors.forename: Ester-Ulsted
authors.initials: EU
authors.lastname: Sorensen
authors.forename: Karen
authors.initials: K
authors.lastname: Brondum-Nielsen
authors.forename: Rodney
authors.initials: R
authors.lastname: Cotterill
authors.forename: Herman von
authors.initials: Hv
authors.lastname: Engeland
authors.forename: Maretha de
authors.initials: Md
authors.lastname: Jonge
authors.forename: Chantal
authors.initials: C
authors.lastname: Kemner
authors.forename: Karlijn
authors.initials: K
authors.lastname: Steggehuis
authors.forename: Margret
authors.initials: M
authors.lastname: Scherpenisse
authors.forename: Michael
authors.initials: M
authors.lastname: Rutter
authors.forename: Patrick F
authors.initials: PF
authors.lastname: Bolton
authors.forename: Jeremy R
authors.initials: JR
authors.lastname: Parr
authors.forename: Annemarie
authors.initials: A
authors.lastname: Poustka
authors.forename: Anthony J
authors.initials: AJ
authors.lastname: Bailey
authors.forename: Anthony P
authors.initials: AP
authors.lastname: Monaco
mesh_terms: D001321:Autistic Disorder / Q000235:genetics*; D015815:Cell Adhesion Molecules / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005260:Female; D005786:Gene Expression Regulation / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D034921:Lamin Type B / Q000235:genetics; D008297:Male; D011401:Promoter Regions, Genetic / Q000235:genetics; D040641:Quantitative Trait Loci / Q000235:genetics*; D020506:Untranslated Regions / Q000235:genetics
chemical_list: D015815:Cell Adhesion Molecules; D034921:Lamin Type B; C491152:NRCAM protein, human; D020506:Untranslated Regions