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• W2049583971 abstract "Idiopathic basal ganglia calcification (IBGC) is characterized by brain calcification and a wide variety of neurologic and psychiatric symptoms. In families with autosomal dominant inheritance, three causative genes have been identified: SLC20A2, PDGFRB, and, very recently, PDGFB. Whereas in clinical practice sporadic presentation of IBGC is frequent, well-documented reports of true sporadic occurrence are rare. We report the case of a 20-year-old woman who presented laryngeal dystonia revealing IBGC. Her healthy parents' CT scans were both normal. We identified in the proband a new nonsense mutation in exon 4 of PDGFB, c.439C>T (p.Gln147*), which was absent from the parents' DNA. This mutation may result in a loss-of-function of PDGF-B, which has been shown to cause IBGC in humans and to disrupt the blood-brain barrier in mice, resulting in brain calcification. The c.439C>T mutation is located between two previously reported nonsense mutations, c.433C>T (p.Gln145*) and c.445C>T (p.Arg149*), on a region that could be a hot spot for de novo mutations. We present the first full demonstration of the de novo occurrence of an IBGC-causative mutation in a sporadic case." @default.
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• W2049583971 date "2014-02-12" @default.
• W2049583971 modified "2023-10-09" @default.
• W2049583971 title "A de novo nonsense PDGFB mutation causing idiopathic basal ganglia calcification with laryngeal dystonia" @default.
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• W2049583971 doi "https://doi.org/10.1038/ejhg.2014.9" @default.
• W2049583971 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/4169546" @default.
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