title: Mutation analysis of the zinc transporter gene SLC30A4 reveals no association with periodic catatonia on chromosome 15q15.
abstract: The zinc transporter gene SLC30A4, located on chromosome 15q15-q21, has previously been reported to show altered expression patterns in post mortem analysis of the brains of schizophrenic patients. As a positional candidate we investigated SLC30A4 in the chromosome 15q15-linked schizophrenic phenotype periodic catatonia (MIM 605419), by means of a systematic mutation screening in affected individuals from exceptionally large pedigrees with perfect co-segregation of a chromosomal segment between marker D15S1042 and D15S659 in all affected individuals. The mutation scan revealed no genetic variants within the coding and the putative promoter region of SLC30A4 and, thus, excludes a genetic association of SLC30A4 with catatonic schizophrenia.
authors: Institute de Biologie de l'Hotel-Dieu, INSERM U 463, Centre Hospitalier Universitaire, Nantes, France, FR.
authors: S
authors: S
authors: Küry
authors: C
authors: C
authors: Rubie
authors: J P
authors: JP
authors: Moisan
authors: G
authors: G
authors: Stöber
mesh_terms: D001921:Brain / Q000378:metabolism / Q000503:physiopathology; D002352:Carrier Proteins / Q000235:genetics* / Q000378:metabolism*; D002874:Chromosome Mapping; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D009154:Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics; D012560:Schizophrenia, Catatonic / Q000235:genetics* / Q000378:metabolism; D015032:Zinc / Q000378:metabolism
chemical_list: D002352:Carrier Proteins; D005819:Genetic Markers; C017800:zinc-binding protein; D015032:Zinc