title: A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
abstract: A baby-girl with congenital deafness was admitted at the age of 8 weeks for lack of head control, truncal hypotonia and echodense kidneys. At the age of 10 weeks cranial MRI showed a normal brain structure, generalized mild hypomyelination but no lactate peak on (1)H MR spectroscopy. A combined defect of respiratory chain enzyme complexes I, III, IV and V and severe depletion of mitochondrial DNA was found in skeletal muscle tissue. Genetic analysis revealed a novel mutation c.368T>C (p.Phe123Ser) in the RRM2B gene in the expressed maternal allele. The paternal allele was present in genomic DNA, but was not expressed as mature mRNA.
authors.affiliation: Department of Pediatrics, Medical University Graz, Graz, Austria.
authors.forename: Birgit
authors.initials: B
authors.lastname: Acham-Roschitz
authors.forename: Barbara
authors.initials: B
authors.lastname: Plecko
authors.forename: Franz
authors.initials: F
authors.lastname: Lindbichler
authors.forename: Reginald
authors.initials: R
authors.lastname: Bittner
authors.forename: Christoph J
authors.initials: CJ
authors.lastname: Mache
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Sperl
authors.forename: Johannes A
authors.initials: JA
authors.lastname: Mayr
mesh_terms: D001921:Brain / Q000378:metabolism; D018797:Cell Cycle Proteins / Q000235:genetics*; D003638:Deafness / Q000150:complications; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007223:Infant; D017237:Mitochondrial Encephalomyopathies / Q000150:complications / Q000235:genetics* / Q000473:pathology; D018482:Muscle, Skeletal / Q000378:metabolism; D009154:Mutation; D012264:Ribonucleotide Reductases / Q000235:genetics*
chemical_list: D018797:Cell Cycle Proteins; C405947:RRM2B protein, human; D012264:Ribonucleotide Reductases