title: A part of patients with autism spectrum disorder has haploidy of HPC-1/syntaxin1A gene that possibly causes behavioral disturbance as in experimentally gene ablated mice.
abstract: Autism spectrum disorder (ASD) is highly heritable and encompasses a various set of neuropsychiatric disorders with a wide-ranging presentation. HPC-1/syntaxin1A (STX1A) encodes a neuronal plasma membrane protein that regulates the secretion of neurotransmitters and neuromodulators. STX1A gene ablated mice (null and heterozygote mutant) exhibit abnormal behavioral profiles similar to human autistic symptoms, accompanied by reduction of monoamine secretion. To determine whether copy number variation of STX1A gene and the change of its expression correlate with ASD as in STX1A gene ablated mice, we performed copy number assay and real-time quantitative RT-PCR using blood or saliva samples from ASD patients. We found that some ASD patients were haploid for the STX1A gene similar to STX1A heterozygote mutant mice. However, copy number of STX1A gene was normal in the parents and siblings of ASD patients with STX1A gene haploidy. In ASD patients with gene haploidy, STX1A mRNA expression was reduced to about half of their parents. Thus, a part of ASD patients had haploidy of STX1A gene and lower STX1A gene expression.
authors.affiliation: Radioisotope Laboratory, Kyorin University School of Medicine, Mitaka, Tokyo 181-8611, Japan; Department of Cell Physiology, Kyorin University School of Medicine, Mitaka, Tokyo 181-8611, Japan. Electronic address: kofuji@ks.kyorin-u.ac.jp.
authors.forename: Takefumi
authors.initials: T
authors.lastname: Kofuji
authors.affiliation: Department of Pediatrics, University Medical Center, Faculty of Health and Welfare, Prefectural University of Hiroshima, Mihara, Hiroshima 723-0053, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Hayashi
authors.affiliation: Department of Cell Physiology, Kyorin University School of Medicine, Mitaka, Tokyo 181-8611, Japan.
authors.forename: Tomonori
authors.initials: T
authors.lastname: Fujiwara
authors.affiliation: Department of Cell Physiology, Kyorin University School of Medicine, Mitaka, Tokyo 181-8611, Japan.
authors.forename: Masumi
authors.initials: M
authors.lastname: Sanada
authors.affiliation: Department of Occupational Therapy, Faculty of Health and Welfare, Prefectural University of Hiroshima, Mihara, Hiroshima 723-0053, Japan.
authors.forename: Masao
authors.initials: M
authors.lastname: Tamaru
authors.affiliation: Department of Cell Physiology, Kyorin University School of Medicine, Mitaka, Tokyo 181-8611, Japan.
authors.forename: Kimio
authors.initials: K
authors.lastname: Akagawa
mesh_terms: D000293:Adolescent; D000818:Animals; D000067877:Autism Spectrum Disorder / Q000235:genetics*; D002648:Child; D005260:Female; D018628:Gene Dosage; D006238:Haploidy; D006801:Humans; D008297:Male; D051379:Mice; D008817:Mice, Mutant Strains; D010375:Pedigree; D050827:Syntaxin 1 / Q000235:genetics*; D055815:Young Adult
chemical_list: C494212:STX1A protein, human; D050827:Syntaxin 1
keywords: Autism spectrum disorder; Gene expression; Haploid; Syntaxin1A