Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC)

Volpato, Cláudia B.; Grandi, Alessandro De; Buffone, Ebba; Pichler, Irene; Gebert, Uwe; Schifferle, Günther; Schönhuber, Rudolf; Pramstaller, Peter P.

doi:10.1002/ajmg.b.30748

Cited by 9 publications

(6 citation statements)

References 12 publications

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“…Neurological and psychiatric symptoms of headache and depression are present in family member II:6. Most subjects with brain calcium calcification are clinically asymptomatic as some authors previously described [Geschwind et al, 1999; Oliveira et al, 2004, 2007; Preusser et al, 2007; Volpato et al, 2008, 2009]. IBGC in the Chinese family under this study was transmitted over three generations in an autosomal dominant fashion (Fig.…”

Section: Discussionsupporting

confidence: 57%

“…Several IBGC families from Australia, China, Canada, and Germany were not linked to the chromosome 14q13 locus, indicating the existence of genetic heterogeneity [Brodaty et al, 2002; Oliveira et al, 2004]. Recently, a large South Tyrolean family with 14 subjects affected with basal ganglia calcification was not linked to the IBGC1 locus, either [Volpato et al, 2008]. Further analysis of the family identified a putative new locus for IBGC on 2q37 (IBGC2) [Volpato et al, 2009], although the analysis yielded a maximum −log10( P ‐value) for the NPL pair of 2.44 for marker D2S2973 , which is lower than the threshold NPL score of 3.18 for suggestive linkage.…”

Section: Introductionmentioning

confidence: 99%

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Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Dai

Gao

et al. 2010

American J of Med Genetics Pt B

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Idiopathic basal ganglia calcification (IBGC) is a neurodegenerative disorder that is characterized by basal ganglia and extrabasal ganglia calcification, and usually inherited in an autosomal dominant pattern. To date, two genetic loci for IBGC were identified on chromosomes 14q and 2q, but further genetic heterogeneity clearly exists. In this study, a large Chinese family with autosomal dominant IBGC was characterized. Linkage analysis excluded the 14q13 and 2q37 loci. The large family was then characterized by genome-wide linkage analysis to identify a novel genetic locus for IBGC. Significant linkage was identified with markers on chromosome 8p21.1-q11.23 with a maximum LOD score of 4.10. Fine mapping defined the new genetic locus within a 25 Mb region between markers D8S1809 and D8S1833. Future studies of the candidate genes at the 8p21.1-q11.23 locus may lead to identification of a disease-causing gene with IBGC.

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Section: Discussionsupporting

confidence: 57%

Section: Introductionmentioning

confidence: 99%

Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Dai

Gao

et al. 2010

American J of Med Genetics Pt B

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“…Recently, Volpato et al 2008 reported a linkage study excluding a 14q chromosome region (locus IBGC1) in a large family with IBGC, originally from a population isolate in South Tyrol, Italy.…”

Section: Dear Editormentioning

confidence: 99%

“…Volpato et al 2008 should consider the possibility of facing a new syndrome that must be screened initially with a sensitive caryotype study, including microdeletion analysis and testing hypersensitivity to radiation and bleomycin. This could eventually explain the whole clinical heterogeneity in this pedigree and discard the possibility of comorbity.…”

Section: Dear Editormentioning

confidence: 99%

Linkage studies in familial idiopathic basal ganglia calcification: Separating the wheat from the chaff

Oliveira

Lemos

2008

American J of Med Genetics Pt B

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Idiopathic Basal Ganglia Calcification (IBGC) is a neuropsychiatric condition characterized by brain calcinosis, heterogeneous motor impairment and behavioral symptoms. The IBGC1 locus was the first region linked to this phenotype in an American family, but another kindred from Spain was also reported as possibly associated with this locus. Our group excluded this locus in additional families together with an independent study of an Australian pedigree with IBGC, but without clinical symptoms. Recently, a large Italian family from a population isolate was excluded from IBGC1. However, there are unusual aspects concerning this Tyrolean family, especially if we consider that almost all the clinically affected subjects manifested symptoms and signs suggestive of a dysmorphic syndrome, associated with neuropsychiatric symptoms. Curiously, some of the clinical features in this kindred match with the autosomal dominant chromosomal instability syndrome reported in Japan. Previous studies show that the definition of an autosomal dominant pattern of inheritance is an assumption that might be considered cautiously in familial IBGC, due to the limited clinical penetrance for the brain calcifications and especially when there is no access to all the parents neuroimaging data. Families from an Italian isolate, such as Tyrol, with high inbreeding rates, are more likely to manifest recessive syndromes. Nevertheless, the current debate regarding the nosology of this heterogeneous phenotype demands the establishment of standard diagnostic criteria. The current identification of loci or mutations responsible for FIBGC might help to elucidate this intriguing neuropsychiatric condition.

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“…The original ‘IBGC2’ family from South Tyrol, Italy was included among the familial cases. Detailed information about the ‘IBGC2’ kindred has been previously published . Clinical data of the ‘IBGC2’ kindred and respective ratings of computed tomography (CT) scans can be found in Supplementary Tables 1 and 2.…”

Section: Methodsmentioning

confidence: 99%

Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead toSLC20A2

et al. 2016

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The identified SLC20A2 mutation resolves the genetic cause of primary familial brain calcification in the 'IBGC2' kindred, collapsing 'IBGC2' into IBGC1. We suggest an algorithm for predicting the chances of finding genetic mutations that has to be validated in further studies. Our study enhances criteria for the evaluation of neuroimaging data, contributing further to the much needed harmonization of diagnostic and research data collection in primary familial brain calcification. © 2016 International Parkinson and Movement Disorder Society.

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Exclusion of linkage to chromosome 14q in a large South Tyrolean family with idiopathic basal ganglia calcification (IBGC)

Cited by 9 publications

References 12 publications

Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Identification of a novel genetic locus on chromosome 8p21.1–q11.23 for idiopathic basal ganglia calcification

Linkage studies in familial idiopathic basal ganglia calcification: Separating the wheat from the chaff

Primary familial brain calcification in the ‘IBGC2’ kindred: All linkage roads lead toSLC20A2

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