Association study with two markers of a human homeogene in infantile autism.

Petit, Élisabeth; Hérault, Jósiane; Martineau, J.; Perrot, Anne; Barthélémy, Catherine; Hameury, L.; Sauvage, D; G, Lelord; Müh, J.P.

doi:10.1136/jmg.32.4.269

Cited by 95 publications

(60 citation statements)

References 41 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Seen in this light, Engrailed seems to capture many aspects of the autistic brain and has the potential to unveil many more. To date, three genetic studies have linked the human En2 gene to autism [13,32,51]. These studies concur with reports that describe the broad similarities between the neuropathology of the En2 −/− mouse and a subset of features commonly found in autism.…”

Section: Introductionsupporting

confidence: 70%

The mouse Engrailed genes: A window into autism

Kuemerle

Gulden

Cherosky

et al. 2007

Behavioural Brain Research

View full text Add to dashboard Cite

The complex behavioral symptoms and neuroanatomical abnormalities observed in autistic individuals strongly suggest a multi-factorial basis for this perplexing disease. Although not the perfect model, we believe the Engrailed genes provide an invaluable "window" into the elusive etiology of Autism Spectrum Disorder. The Engrailed-2 gene has been associated with autism in genetic linkage studies. The En2 knock-out mouse harbors cerebellar abnormalities that are similar to those found in autistic individuals and, as we report here, has a distinct anterior shift in the position of the amygdala in the cerebral cortex. Our initial analysis of background effects in the En1 mouse knock-out provides insight as to possible molecular mechanisms and gender differences associated with autism. These findings further the connection between Engrailed and autism and provide new avenues to explore in the ongoing study of the biological basis of this multifaceted disease.

show abstract

Section: Introductionsupporting

confidence: 70%

The mouse Engrailed genes: A window into autism

Kuemerle

Gulden

Cherosky

et al. 2007

Behavioural Brain Research

View full text Add to dashboard Cite

show abstract

“…Currently, few studies on candidate genes which converge on linkage signals have been consistently associated with autism (Folstein and Rosen-Sheidley, 2001;Bartlett et al, 2005). Among them, and within a widely confirmed linkage region in the long arm of chromosome 7, recent evidence has shown that Wnt2 and Engrailed 2 (EN2), a Wnt/b-catenin target gene (McGrew et al, 1999), may be genetically associated with autism (Petit et al, 1995;Wassink et al, 2001;McCoy et al, 2002;Zhong et al, 2003;Gharani et al, 2004;Benayed et al, 2005).…”

Section: Wnt Signaling and Autismmentioning

confidence: 99%

“…At present, several polymorphisms in exons as well as introns and regulatory regions of the EN2 gene have been genotyped in different autistic samples including families coming from the Autism Genetic Resource Exchange (AGRE) initiative as well as to the NIMH Center for Collaborative Genetic Studies (Petit et al, 1995;Zhong et al, 2003;Gharani et al, 2004;Benayed et al, 2005). Previous studies found an association of a PvuII restriction fragment length polymorphism located in the 5 0 UTR region of EN2 in 100 autistic children and 100 control children (Petit et al, 1995). More recently, in a large number of nuclear families it was demonstrated that two intronic SNPs (SNP id: rs1861972 and rs1861973) were highly associated with the autistic phenotype, both in single locus tests as well as in haplotype analysis (Gharani et al, 2004;Benayed et al, 2005).…”

Section: Wnt Signaling and Autismmentioning

confidence: 99%

The ups and downs of Wnt signaling in prevalent neurological disorders

2006

View full text Add to dashboard Cite

In order to function properly, the brain must be wired correctly during critical periods in early development. Mistakes in this process are hypothesized to occur in disorders like autism and schizophrenia. Later in life, signaling pathways are essential in maintaining proper communication between neuronal and non-neuronal cells, and disrupting this balance may result in disorders like Alzheimer's disease. The Wnt/b-catenin pathway has a well-established role in cancer. Here, we review recent evidence showing the involvement of Wnt/b-catenin signaling in neurodevelopment as well as in neurodegenerative diseases. We suggest that the onset/development of such pathological conditions may involve the additive effect of genetic variation within Wnt signaling components and of molecules that modulate the activity of this signaling cascade.

show abstract

“…[191][192][193][194] EN2 is a homeobox transcription factor that plays a role during cerebellar and brainstem development.…”

mentioning

confidence: 99%

The genetics of autistic disorders and its clinical relevance: a review of the literature

2006

View full text Add to dashboard Cite

Twin and family studies in autistic disorders (AD) have elucidated a high heritability of the narrow and broad phenotype of AD. In this review on the genetics of AD, we will initially delineate the phenotype of AD and discuss aspects of differential diagnosis, which are particularly relevant with regard to the genetics of autism. Cytogenetic and molecular genetic studies will be presented in detail, and the possibly involved aetiopathological pathways will be described. Implications of the different genetic findings for genetic counselling will be mentioned.

show abstract

Association study with two markers of a human homeogene in infantile autism.

Cited by 95 publications

References 41 publications

The mouse Engrailed genes: A window into autism

The mouse Engrailed genes: A window into autism

The ups and downs of Wnt signaling in prevalent neurological disorders

The genetics of autistic disorders and its clinical relevance: a review of the literature

Contact Info

Product

Resources

About