Narrowing the critical deletion region for autism spectrum disorders on 16p11.2

Crepel, An; Steyaert, Jean; Marche, Wouter De la; Wolf, Veerle De; Fryns, Jean‐Pierre; Noens, Ilse; Devriendt, Koenraad; Peeters, Hilde

doi:10.1002/ajmg.b.31163

Cited by 51 publications

(38 citation statements)

References 13 publications

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“…2, Table I) Weiss et al, 2008;Bochukova et al, 2010;Rosenfeld et al, 2010;Walters et al, 2010;Jacquemont et al, 2011;Sanders et al, 2011]. Recent work in autism has identified atypical deletions and point mutations highlighting SEZ6L2 as a strong candidate for the deletion phenotype [Kumar et al, 2008;Crepel et al, 2011;Konyukh et al, 2011]. There is also conflicting evidence that phenotypic variability at this locus may be controlled by second-site CNVs in humans.…”

Section: Variable Expressivity Of Specific Locimentioning

confidence: 99%

The genetic variability and commonality of neurodevelopmental disease

Coe¹,

Girirajan²,

Eichler

2012

American J of Med Genetics Pt C

108

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Despite detailed clinical definition and refinement of neurodevelopmental disorders and neuropsychiatric conditions, the underlying genetic etiology has proved elusive. Recent genetic studies have revealed some common themes: considerable locus heterogeneity, variable expressivity for the same mutation, and a role for multiple disruptive events in the same individual affecting genes in common pathways. Recurrent copy number variation (CNV), in particular, has emphasized the importance of either de novo or essentially private mutations creating imbalances for multiple genes. CNVs have foreshadowed a model where the distinction between milder neuropsychiatric conditions from those of severe developmental impairment may be a consequence of increased mutational burden affecting more genes.

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Section: Variable Expressivity Of Specific Locimentioning

confidence: 99%

The genetic variability and commonality of neurodevelopmental disease

Coe¹,

Girirajan²,

Eichler

2012

American J of Med Genetics Pt C

108

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show abstract

“…Some recent prominent examples include a small duplication of VIPR2 in schizophrenia, and focal partial deletions of TMHLE in ASD [44,47,48]. Smaller CNVs also confer the advantage of reducing the smallest region of overlap for large CNV regions, such as the potential refinement of the 15q13.3 microdeletion to CHRNA7, the 17q21.31 microdeletion to MAPT/KIAA1267 [1], and the 16p11.2 deletion to SEZL6 [49][50][51].…”

Section: Size Spectrum Of Copy Number Variationmentioning

confidence: 99%

A genetic model for neurodevelopmental disease

Coe¹,

Girirajan²,

Eichler³

2012

Current Opinion in Neurobiology

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The genetic basis of neurodevelopmental and neuropsychiatric diseases has been advanced by the discovery of large and recurrent copy number variants significantly enriched in cases when compared to controls. The pattern of this variation strongly implies that rare variants contribute significantly to neurological disease; that different genes will be responsible for similar diseases in different families; and that the same "primary" genetic lesions can result in a different disease outcome depending potentially on the genetic background. Next-generation sequencing technologies are beginning to broaden the spectrum of disease-causing variation and provide specificity by pinpointing both genes and pathways for future diagnostics and therapeutics.

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“…Our finding supports this hypothesis. However, the report of Crepel et al on the recurrent 16p11.2 deletion segregating with ASD or ASD traits in a threegeneration family did not sustain this hypothesis (Crepel et al 2011).…”

Section: Discussionmentioning

confidence: 91%

“…This patient had a coronin-1A (CORO1A) gene mutation which was unmasked by a de novo 16p11.2 deletion. However, sequencing efforts to identify recessive alleles in genes critical to developmental delay or ASD within the 16p11.2 region were unsuccessful (Ghebranious et al 2007;Bijlsma et al 2009;Crepel et al 2011). It is possible that the consanguinity in the familial case (case I) plays a role in the phenotypic severity.…”

Section: Discussionmentioning

confidence: 99%