Novel rare missense variations and risk of autism spectrum disorder: whole-exome sequencing in two families with affected siblings and a two-stage follow-up study in a Japanese population.

PubWeight™: 0.78‹?›

🔗 View Article (PMC 4373693)

Published in PLoS One on March 25, 2015

Authors

Jun Egawa1, Yuichiro Watanabe2, Chenyao Wang3, Emiko Inoue4, Atsunori Sugimoto4, Toshiro Sugiyama5, Hirofumi Igeta4, Ayako Nunokawa6, Masako Shibuya7, Itaru Kushima3, Naoki Orime4, Taketsugu Hayashi4, Takashi Okada3, Yota Uno3, Norio Ozaki3, Toshiyuki Someya4

Author Affiliations

1: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; Department of Pediatric Psychiatry, Center for Transdisciplinary Research, Niigata University, Niigata, Japan.
2: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; Division of Medical Education, Comprehensive Medical Education Center, School of Medicine, Faculty of Medicine, Niigata University, Niigata, Japan.
3: Department of Psychiatry, Nagoya University Graduate School of Medicine, Nagoya, Aichi, Japan.
4: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan.
5: Department of Child and Adolescent Psychiatry, Hamamatsu University School of Medicine, Hamamatsu, Shizuoka, Japan.
6: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; Oojima Hospital, Sanjo, Niigata, Japan.
7: Department of Psychiatry, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan; Health Administration Center, Headquarters for Health Administration, Niigata University, Niigata, Japan.

Articles cited by this

The contribution of de novo coding mutations to autism spectrum disorder. Nature (2014) 5.94

The genetics of autism spectrum disorders and related neuropsychiatric disorders in childhood. Am J Psychiatry (2010) 4.92

Most genetic risk for autism resides with common variation. Nat Genet (2014) 4.10

Using whole-exome sequencing to identify inherited causes of autism. Neuron (2013) 2.74

Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. Hum Mutat (2011) 2.13

Optimal outcome in individuals with a history of autism. J Child Psychol Psychiatry (2013) 1.83

Identification and molecular characterization of two novel chromosomal deletions associated with autism. Clin Genet (2010) 1.71

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet (1999) 1.61

Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy. Hum Mutat (2004) 1.02

The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum. Hum Mol Genet (2000) 0.98

Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations. Mol Psychiatry (2013) 0.98

No association between the brain-derived neurotrophic factor gene and schizophrenia in a Japanese population. Schizophr Res (2006) 0.92

A novel CLN8 mutation in late-infantile-onset neuronal ceroid lipofuscinosis (LINCL) reveals aspects of CLN8 neurobiological function. Hum Mutat (2009) 0.91

The dopamine D3 receptor (DRD3) gene and risk of schizophrenia: case-control studies and an updated meta-analysis. Schizophr Res (2010) 0.87

The apoptotic perspective of autism. Int J Dev Neurosci (2014) 0.87

Localization of wild-type and mutant neuronal ceroid lipofuscinosis CLN8 proteins in non-neuronal and neuronal cells. J Neurosci Res (2004) 0.84

Resequencing and association analysis of OXTR with autism spectrum disorder in a Japanese population. Psychiatry Clin Neurosci (2014) 0.80

Articles by these authors

DRD2 Ser311Cys polymorphism and risk of schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2015) 1.07

Single-neuron and genetic correlates of autistic behavior in macaque. Sci Adv (2016) 0.82

Association analysis of putative cis-acting polymorphisms of interleukin-19 gene with schizophrenia. Prog Neuropsychopharmacol Biol Psychiatry (2013) 0.81

Investigation of Rare Single-Nucleotide PCDH15 Variants in Schizophrenia and Autism Spectrum Disorders. PLoS One (2016) 0.77

Mutation screening of GRIN2B in schizophrenia and autism spectrum disorder in a Japanese population. Sci Rep (2016) 0.77

Whole-exome sequencing in a family with a monozygotic twin pair concordant for autism spectrum disorder and a follow-up study. Psychiatry Res (2015) 0.76

Factor structure of the Japanese version of the Edinburgh Postnatal Depression Scale in the postpartum period. PLoS One (2014) 0.76

Association analysis of the HLA-DRB1*01 and HLA-DRB1*04 with schizophrenia by tag SNP genotyping in the Japanese population. Psychiatry Res (2015) 0.76

Effects of olanzapine on the PR and QT intervals in patients with schizophrenia. Schizophr Res (2013) 0.76

Rare UNC13B variations and risk of schizophrenia: Whole-exome sequencing in a multiplex family and follow-up resequencing and a case-control study. Am J Med Genet B Neuropsychiatr Genet (2016) 0.76

Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population. PLoS One (2015) 0.75

Effect of Serum Leptin on Weight Gain Induced by Olanzapine in Female Patients with Schizophrenia. PLoS One (2016) 0.75

Association of copy number polymorphisms at the promoter and translated region of COMT with Japanese patients with schizophrenia. Am J Med Genet B Neuropsychiatr Genet (2016) 0.75

An unbiased data-driven age-related structural brain parcellation for the identification of intrinsic brain volume changes over the adult lifespan. Neuroimage (2017) 0.75

Improvement of dumping syndrome and oversecretion of glucose-dependent insulinotropic polypeptide following a switch from olanzapine to quetiapine in a patient with schizophrenia. Gen Hosp Psychiatry (2015) 0.75

Regional decrease in gray matter volume is related to body dissatisfaction in anorexia nervosa. Psychiatry Res (2017) 0.75

Cardiovascular pharmacodynamics of donepezil hydrochloride on the PR and QT intervals in patients with dementia. Hum Psychopharmacol (2014) 0.75

Updated meta-analysis of CMYA5 rs3828611 and rs4704591 with schizophrenia in Asian populations. Early Interv Psychiatry (2017) 0.75

Rare FBXO18 variations and risk of schizophrenia: whole-exome sequencing in two parent-affected offspring trios followed by resequencing and case-control studies. Psychiatry Clin Neurosci (2017) 0.75

Two cases of musical hallucination successfully treated with quetiapine. Psychiatry Clin Neurosci (2017) 0.75

Prevalence of underweight in patients with schizophrenia: A meta-analysis. Schizophr Res (2017) 0.75

Rare PDCD11 variations are not associated with risk of schizophrenia in Japan. Psychiatry Clin Neurosci (2017) 0.75

Association of Polygenic Score for Schizophrenia and HLA Antigen and Inflammation Genes With Response to Lithium in Bipolar Affective Disorder: A Genome-Wide Association Study. JAMA Psychiatry (2017) 0.75