Three novel missense mutations in SLC20A2 associated with idiopathic basal ganglia calcification

Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification

Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequenc...

Mutations at the SLC20A2 gene and brain resilience in families with idiopathic basal ganglia calcification (“Fahr's disease”)

Wang et al. (2012) recently identified seven novel mutations at the SLC20A2 gene in families from China, Spain and Brazil, suggesting that Familial Idiopathic Basal Ganglia Calcification (IBGC) might be a phosphate imbalance disorder. Expressing wild-type human SLC20A2 and the mutated variants, using transport assays in Xenopus oocytes, resulted in significant impaired Pi transport. On the othe...

Idiopathic familial basal ganglia calcification associated with juvenile hypertension.

fahr disease: idiopathic basal ganglia calcification

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Mutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification

BACKGROUND Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including th...