Evidence for autism spectrum disorder in Jacobsen syndrome: identification of a candidate gene in distal 11q

Akshoomoff, Natacha; Mattson, Sarah N.; Grossfeld, Paul

doi:10.1038/gim.2014.86

Cited by 39 publications

(36 citation statements)

References 36 publications

(27 reference statements)

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“…For example, Akshoomoff and colleagues recently highlighted the neuron-associated GTPase activating protein ( ARHGAP32 ) as the best candidate gene for ASD features associated with Jacobsen syndrome based on overlapping deletions that narrowed the critical region to include this locus among three other genes38. To our knowledge, we discovered the first DN LGD mutation in ARHGAP32 in a patient with ASD although one DN missense variant has been previously reported13.…”

Section: Discussionmentioning

confidence: 78%

De novo genic mutations among a Chinese autism spectrum disorder cohort

et al. 2016

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Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly to autism spectrum disorders (ASDs) but have been primarily investigated in European cohorts. Here, we sequence 189 risk genes in 1,543 Chinese ASD probands (1,045 from trios). We report an 11-fold increase in the odds of DN LGD mutations compared with expectation under an exome-wide neutral model of mutation. In aggregate, ∼4% of ASD patients carry a DN mutation in one of just 29 autism risk genes. The most prevalent gene for recurrent DN mutations is SCN2A (1.1% of patients) followed by CHD8, DSCAM, MECP2, POGZ, WDFY3 and ASH1L. We identify novel DN LGD recurrences (GIGYF2, MYT1L, CUL3, DOCK8 and ZNF292) and DN mutations in previous ASD candidates (ARHGAP32, NCOR1, PHIP, STXBP1, CDKL5 and SHANK1). Phenotypic follow-up confirms potential subtypes and highlights how large global cohorts might be leveraged to prove the pathogenic significance of individually rare mutations.

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Section: Discussionmentioning

confidence: 78%

De novo genic mutations among a Chinese autism spectrum disorder cohort

et al. 2016

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“…We note that MED13L haploinsufficiency is well established 34,35 ; others, such as DSCAM and GIGYF2, are emerging high-impact risk genes from exome and CNV studies 23,36,37 . For example, Akshoomoff and colleagues recently highlighted the neuronassociated GTPase activating protein (ARHGAP32) as the best candidate gene for ASD features associated with Jacobsen syndrome based on overlapping deletions that narrowed the critical region to include this locus among three other genes 38 .…”

Section: Discussionmentioning

confidence: 99%

De Novo Genic Mutations Among a Chinese Autism Spectrum Disorder Cohort

Wang

Guo

Xiong

et al. 2017

European Neuropsychopharmacology

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“…ARHGAP32 interacts with the NR2B subunit of the NMDA receptor and promotes the activation of the RhoGTPase RhoA in response to NMDA activation 283 ( Figure 6). Several genetic studies have identified de novo LGD mutations in the ARHGAP32 gene in ASD patients, with notably patients presenting a 11q deletion characteristic of Jacobsen syndrome 284,285 .…”

Section: Arhgap32 (Arhgap32)mentioning

confidence: 99%