RGD Reference Report - Mutation screening and association analysis of six candidate genes for autism on chromosome 7q. - Rat Genome Database

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

Authors: Bonora, E  Lamb, JA  Barnby, G  Sykes, N  Moberly, T  Beyer, KS  Klauck, SM  Poustka, F  Bacchelli, E  Blasi, F  Maestrini, E  Battaglia, A  Haracopos, D  Pedersen, L  Isager, T  Eriksen, G  Viskum, B  Sorensen, EU  Brondum-Nielsen, K  Cotterill, R  Engeland, H  Jonge, M  Kemner, C  Steggehuis, K  Scherpenisse, M  Rutter, M  Bolton, PF  Parr, JR  Poustka, A  Bailey, AJ  Monaco, AP  Monaco, Anthony P 
Citation: Bonora E, etal., Eur J Hum Genet. 2005 Feb;13(2):198-207.
RGD ID: 1624317
Pubmed: PMID:15523497   (View Abstract at PubMed)
DOI: DOI:10.1038/sj.ejhg.5201315   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
autistic disorder  IAGP 1624317 RGD 
autistic disorder  ISOLAMB1 (Homo sapiens)1624317; 1624317 RGD 

Objects Annotated

Genes (Rattus norvegicus)
Lamb1  (laminin subunit beta 1)

Genes (Mus musculus)
Lamb1  (laminin B1)

Genes (Homo sapiens)
LAMB1  (laminin subunit beta 1)


Additional Information