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Haplotypes in the gene encoding protein kinase c-beta (PRKCB1) on chromosome 16 are associated with autism.
Philippi A,
Roschmann E,
Tores F,
Lindenbaum P,
Benajou A,
Germain-Leclerc L,
Marcaillou C,
Fontaine K,
Vanpeene M,
Roy S,
Maillard S,
Decaulne V,
Saraiva JP,
Brooks P,
Rousseau F,
Hager J.
IntegraGen SA, Genopole, Evry, France.
Autism is a developmental disorder characterized by impairments in social interaction and communication associated with repetitive patterns of interest or behavior. Autism is highly influenced by genetic factors. Genome-wide linkage and candidate gene association approaches have been used to try and identify autism genes. A few loci have repeatedly been reported linked to autism. Several groups reported evidence for linkage to a region on chromosome 16p. We have applied a direct physical identity-by-descent (IBD) mapping approach to perform a high-density (0.85 megabases) genome-wide linkage scan in 116 families from the AGRE collection. Our results confirm linkage to a region on chromosome 16p with autism. High-resolution single-nucleotide polymorphism (SNP) genotyping and analysis of this region show that haplotypes in the protein kinase c-beta gene are strongly associated with autism. An independent replication of the association in a second set of 167 trio families with autism confirmed our initial findings. Overall, our data provide evidence that the PRKCB1 gene on chromosome 16p may be involved in the etiology of autism.
PMID: 16027742 [PubMed - indexed for MEDLINE]
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Cited by 3 PubMed Central articles
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Robust physical methods that enrich genomic regions identical by descent for linkage studies: confirmation of a locus for osteogenesis imperfecta.
Brooks P, Marcaillou C, Vanpeene M, Saraiva JP, Stockholm D, Francke S, Favis R, Cohen N, Rousseau F, Tores F, et al.
BMC Genet. 2009 Mar 30; 10:16. Epub 2009 Mar 30.
[BMC Genet. 2009]
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Association of autism with polymorphisms in the paired-like homeodomain transcription factor 1 (PITX1) on chromosome 5q31: a candidate gene analysis.
Philippi A, Tores F, Carayol J, Rousseau F, Letexier M, Roschmann E, Lindenbaum P, Benajjou A, Fontaine K, Vazart C, et al.
BMC Med Genet. 2007 Dec 6; 8:74. Epub 2007 Dec 6.
[BMC Med Genet. 2007]
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Discrimination learning and reversal of the conditioned eyeblink reflex in a rodent model of autism.
Stanton ME, Peloso E, Brown KL, Rodier P.
Behav Brain Res. 2007 Jan 10; 176(1):133-40. Epub 2006 Nov 29.
[Behav Brain Res. 2007]