title: Heterozygous deletion of ITPR1, but not SUMF1, in spinocerebellar ataxia type 16.
abstract: We have previously mapped autosomal dominant spinocerebellar ataxia (SCA) 16 to 3p26, overlapping with the locus of SCA15. Recently, partial deletions of ITPR1 and the neighbouring SUMF1 in the SCA15 and two additional families were reported. In the present study we determined the copy number of these genes by real time quantitative polymerase chain reaction (PCR) and found a heterozygous deletion of exons 1-48 of ITPR1, but not SUMF1 in SCA16. Breakpoint analysis revealed that the size of the deletion is 313,318 bp and the telomeric breakpoint is located in the middle of their intergenic region. Our data provide evidence that haploinsufficiency of ITPR1 alone causes SCA16 and SCA15.
authors.affiliation: Division of Human Molecular Genetics, Research Center for Genetic Information, Medical Institute of Bioregulation, Kyushu University, Maidashi 3-1-1, Higashi-ku, Fukuoka 812-8582, Japan.
authors.forename: A
authors.initials: A
authors.lastname: Iwaki
authors.forename: Y
authors.initials: Y
authors.lastname: Kawano
authors.forename: S
authors.initials: S
authors.lastname: Miura
authors.forename: H
authors.initials: H
authors.lastname: Shibata
authors.forename: D
authors.initials: D
authors.lastname: Matsuse
authors.forename: W
authors.initials: W
authors.lastname: Li
authors.forename: H
authors.initials: H
authors.lastname: Furuya
authors.forename: Y
authors.initials: Y
authors.lastname: Ohyagi
authors.forename: T
authors.initials: T
authors.lastname: Taniwaki
authors.forename: J
authors.initials: J
authors.lastname: Kira
authors.forename: Y
authors.initials: Y
authors.lastname: Fukumaki
mesh_terms: D001483:Base Sequence; D005091:Exons / Q000235:genetics; D018628:Gene Dosage; D006579:Heterozygote; D006801:Humans; D053496:Inositol 1,4,5-Trisphosphate Receptors / Q000235:genetics*; D008969:Molecular Sequence Data; D050862:Oxidoreductases Acting on Sulfur Group Donors; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017384:Sequence Deletion; D020754:Spinocerebellar Ataxias / Q000235:genetics*; D013429:Sulfatases / Q000235:genetics
chemical_list: C506926:ITPR1 protein, human; D053496:Inositol 1,4,5-Trisphosphate Receptors; D050862:Oxidoreductases Acting on Sulfur Group Donors; C480483:SUMF1 protein, human; D013429:Sulfatases