Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, which were negative for mutations in the PANK2 and PLA2G6 genes. Follow-up molecular genetic and in vitro analyses were then performed. We did not find any mutations in the FA2H gene, although we identified 3 patients carrying novel mutations in the C19orf12 gene. The recent discovery of new genes responsible for NBIA extends the spectrum of the genetic investigation now available for these disorders and makes it possible to delineate a clearer clinical-genetic classification of different forms of this syndrome. A large fraction of patients still remain without a molecular genetics diagnosis, suggesting that additional NBIA genes are still to be discovered.

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation / C. Panteghini, G. Zorzi, P. Venco, S. Dusi, C. Reale, D. Brunetti, L. Chiapparini, F. Zibordi, B. Siegel, B. Garavaglia, A. Simonati, E. Bertini, N. Nardocci, V. Tiranti. - In: SEMINARS IN PEDIATRIC NEUROLOGY. - ISSN 1071-9091. - 19:2(2012), pp. 75-81.

C19orf12 and FA2H Mutations Are Rare in Italian Patients With Neurodegeneration With Brain Iron Accumulation

S. Dusi;C. Reale;D. Brunetti;
2012

Abstract

Neurodegeneration with brain iron accumulation (NBIA) defines a wide spectrum of clinical entities characterized by iron accumulation in specific regions of the brain, predominantly in the basal ganglia. We evaluated the presence of FA2H and C19orf12 mutations in a cohort of 46 Italian patients with early onset NBIA, which were negative for mutations in the PANK2 and PLA2G6 genes. Follow-up molecular genetic and in vitro analyses were then performed. We did not find any mutations in the FA2H gene, although we identified 3 patients carrying novel mutations in the C19orf12 gene. The recent discovery of new genes responsible for NBIA extends the spectrum of the genetic investigation now available for these disorders and makes it possible to delineate a clearer clinical-genetic classification of different forms of this syndrome. A large fraction of patients still remain without a molecular genetics diagnosis, suggesting that additional NBIA genes are still to be discovered.
Adolescent; Adult; Cohort Studies; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Genotype; Humans; Iron Metabolism Disorders; Italy; Male; Microscopy, Electron, Transmission; Mitochondrial Proteins; Mixed Function Oxygenases; Mutation; Neuroaxonal Dystrophies; Skin; Young Adult; Pediatrics, Perinatology and Child Health; Neurology (clinical)
Settore MED/03 - Genetica Medica
Settore BIO/14 - Farmacologia
Settore MED/26 - Neurologia
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/622790
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