Author pages are created from data sourced from our academic publisher partnerships and public sources.
Share This Author
SHANK1 Deletions in Males with Autism Spectrum Disorder.
Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability.
Novel de novo SHANK3 mutation in autistic patients
- J. Gauthier, D. Spiegelman, G. Rouleau
- BiologyAmerican journal of medical genetics. Part B…
- 5 April 2009
The identification of two putative causative mutations are reported: one being a de novo deletion at an intronic donor splice site and one missense transmitted from an epileptic father, which further support the role of SHANK3 gene disruption in the etiology of ASD.
Truncating mutations in NRXN2 and NRXN1 in autism spectrum disorders and schizophrenia
NRXN2 disruption to the pathogenesis of ASD is linked for the first time and the involvement of NRXN1 in SCZ is strengthened, supporting the notion of a common genetic mechanism in these disorders.
Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development
It is shown that mutations in genes encoding the receptor-ligand cadherin pair DCHS1 and FAT4 lead to a recessive syndrome in humans that includes periventricular neuronal heterotopia, and these findings implicate Dchs1 and Fat4 upstream of Yap as key regulators of mammalian neurogenesis.
Direct measure of the de novo mutation rate in autism and schizophrenia cohorts.
Mutations in the calcium-related gene IL1RAPL1 are associated with autism.
The results indicate that mutations in IL1RAPL1 cause a spectrum of neurological impairments ranging from MR to high functioning autism.
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
- J. Gauthier, N. Champagne, G. Rouleau
- Psychology, BiologyProceedings of the National Academy of Sciences
- 12 April 2010
Two de novo mutations (R1117X and R536W) were identified in two families, one being found in three affected brothers, suggesting germline mosaicism.
De Novo Mutations in Moderate or Severe Intellectual Disability
It is concluded that DNMs represent a major cause of moderate or severe ID.
Mutations in SYNGAP1 Cause Intellectual Disability, Autism, and a Specific Form of Epilepsy by Inducing Haploinsufficiency
This study confirms the involvement of SYNGAP1 in autism while providing novel insight into the epileptic manifestations associated with its disruption, and suggests that the de novo missense mutations, p.R579X, and possibly all the other truncating mutations in SYngAP1 result in a loss of its function.