2q37 as a Susceptibility Locus for Idiopathic Basal Ganglia Calcification (IBGC) in a Large South Tyrolean Family
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Familial idiopathic basal ganglia calcification (FIBGC) is an inherited neurodegenerative disorder characterized by the accumulation of calcium deposits in different brain regions, particularly in the basal ganglia. FIBGC usually follows an autosomal dominant pattern of inheritance. Despite the mapping to chromosome 14q of a susceptibility locus for IBGC (IBCG1) in one family, this locus has been excluded in several others, demonstrating genetic heterogeneity in this disorder. The etiology of this disorder thus remains largely unknown. Using a large extended multigenerational Italian family from South Tyrol with 17 affected in a total of 56 members, we performed a genome-wide linkage analysis in which we were able to exclude linkage to the IBCG1 locus on chromosome 14q and obtain evidence of a novel locus on chromosome 2q37.
KeywordsFamilial Basal ganglia Calcification Linkage New locus
The authors gratefully acknowledge the contribution of all the study participants and their family members; without their cooperation, this work would have not been possible. We thank Sara Pedrotti, Clemens Egger, Yuri D’Elia, and Donatella Brunelli for the technical support. The study was supported by the Ministry of Health of the Autonomous Province of Bolzano and the South Tyrolean Sparkasse Foundation.
- Ellie E, Julien J, Ferrer X (1989) Familial idiopathic striopallidodentate calcifications. Neurology 3:381–385Google Scholar
- Kong A, Gudbjartsson DF, Sainz J et al (2002) A high-resolution recombination map of the human genome. Nat Genet 3:241–247Google Scholar
- Lopez-Villegas D, Kulisevsky J, Deus J et al (1996) Neuropsychological alterations in patients with computed tomography-detected basal ganglia calcification. Arch Neurol 3:251–256Google Scholar
- Oliveira JR, Lemos RR (2009) Linkage studies in familial idiopathic basal ganglia calcification: separating the wheat from the chaff. Am J Med Genet B Neuropsychiatr Genet 4:594–595 author reply 593Google Scholar
- Oliveira JR, Spiteri E, Sobrido MJ et al (2004) Genetic heterogeneity in familial idiopathic basal ganglia calcification (Fahr disease). Neurology 11:2165–2167Google Scholar
- Sambrook J, Fritsch EF, Maniatis T (1989) Molecular cloning: a laboratory manual. Cold Spring Harbor Laboratory Press, New YorkGoogle Scholar
- Sobel E, Lange K (1996) Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics. Am J Hum Genet 6:1323–1337Google Scholar
- Volpato CB (2008) Letter to the editor in response to: “Linkage Studies in Familial Idiopathic Basal Ganglia Calcification: Separating the Wheat from the Chaff” by Oliveira et al. Am J Med Genet B Neuropsychiatr Genet. 2009 Jun 5;150B(4):594–5. Am J Med Genet B Neuropsychiatr Genet 4:593Google Scholar
- Volpato CB, De Grandi A, Buffone E et al (2008) Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC). Am J Med Genet B Neuropsychiatr Genet 7:1319–1322Google Scholar