| 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 andschizophreniaamong neuroacanthocytosis patients. We hypothesized that neuroacanthocytosis-related-genes might be associated with susceptibility to these psychiatric disorders. We performed a comprehensive mutation screen ofVPS13Aand XK, the gene responsible for ChAc and MLS, respectively, in 85 mood disorder subjects and XK in 86schizophreniasubjects and compared the variants to 100 or more control alleles. We also performed copy number variation (CNV) analysis in 72 mood disorder subjects and 86schizophrenia科目。我们确定了三个非同义,太瓦o synonymous and six intron variants in mood disorder subjects and a novel GAT triplet repeat polymorphism inVPS13A. By CNV analysis, we identified a heterozygous exon 60-61 deletion inVPS13Ain one mood disorder subject. We identified one non-synonymous and one intron variant in mood disorder andschizophreniasubjects, respectively, in XK. The presence of a pathogenic mutation or a potentially functional variant in mood disorder orschizophreniasubjects suggests that neuroacanthocytosis-related-genes might be involved in the pathogenesis of these psychiatric disorders. |