Mutation screening and association analysis of six candidate genes for autism on chromosome 7q.
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.
Bonora
Elena
E
The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford OX3 7BN, UK.
Lamb
Janine A
JA
Barnby
Gabrielle
G
Sykes
Nuala
N
Moberly
Thomas
T
Beyer
Kim S
KS
Klauck
Sabine M
SM
Poustka
Firtz
F
Bacchelli
Elena
E
Blasi
Francesca
F
Maestrini
Elena
E
Battaglia
Agatino
A
Haracopos
Demetrios
D
Pedersen
Lennart
L
Isager
Torben
T
Eriksen
Gunna
G
Viskum
Birgitte
B
Sorensen
Ester-Ulsted
EU
Brondum-Nielsen
Karen
K
Cotterill
Rodney
R
Engeland
Herman von
Hv
Jonge
Maretha de
Md
Kemner
Chantal
C
Steggehuis
Karlijn
K
Scherpenisse
Margret
M
Rutter
Michael
M
Bolton
Patrick F
PF
Parr
Jeremy R
JR
Poustka
Annemarie
A
Bailey
Anthony J
AJ
Monaco
Anthony P
AP
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
D015815:Cell Adhesion Molecules; D034921:Lamin Type B; C491152:NRCAM protein, human; D020506:Untranslated Regions