title: Comprehensive analysis of the genes responsible for neuroacanthocytosis in mood disorder and schizophrenia.
abstract: Neuroacanthocytosis syndromes are mainly comprised of two diseases: chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). There is a high incidence of psychiatric disorders such as mood disorder and schizophrenia among neuroacanthocytosis patients. We hypothesized that neuroacanthocytosis-related-genes might be associated with susceptibility to these psychiatric disorders. We performed a comprehensive mutation screen of VPS13A and XK, the gene responsible for ChAc and MLS, respectively, in 85 mood disorder subjects and XK in 86 schizophrenia subjects and compared the variants to 100 or more control alleles. We also performed copy number variation (CNV) analysis in 72 mood disorder subjects and 86 schizophrenia subjects. We identified three non-synonymous, two synonymous and six intron variants in mood disorder subjects and a novel GAT triplet repeat polymorphism in VPS13A. By CNV analysis, we identified a heterozygous exon 60-61 deletion in VPS13A in one mood disorder subject. We identified one non-synonymous and one intron variant in mood disorder and schizophrenia subjects, respectively, in XK. The presence of a pathogenic mutation or a potentially functional variant in mood disorder or schizophrenia subjects suggests that neuroacanthocytosis-related-genes might be involved in the pathogenesis of these psychiatric disorders.
authors.affiliation: Department of Psychiatry, Kagoshima University Graduate School of Medical and Dental Sciences, 8-35-1 Sakuragaoka, Kagoshima 890-8520, Japan.
authors.forename: Hirochika
authors.initials: H
authors.lastname: Shimo
authors.forename: Masayuki
authors.initials: M
authors.lastname: Nakamura
authors.forename: Akiyuki
authors.initials: A
authors.lastname: Tomiyasu
authors.forename: Mio
authors.initials: M
authors.lastname: Ichiba
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ueno
authors.forename: Akira
authors.initials: A
authors.lastname: Sano
mesh_terms: D026921:Amino Acid Transport Systems, Neutral / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D056915:DNA Copy Number Variations / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007564:Japan; D019964:Mood Disorders / Q000150:complications; D054546:Neuroacanthocytosis / Q000150:complications / Q000235:genetics*; D012559:Schizophrenia / Q000150:complications; D014443:Tyrosine / Q000235:genetics; D033921:Vesicular Transport Proteins / Q000235:genetics*
chemical_list: D026921:Amino Acid Transport Systems, Neutral; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins; C087883:XK protein, human; D014443:Tyrosine; D003545:Cysteine