A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy.
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.
Acham-Roschitz
Birgit
B
Department of Pediatrics, Medical University Graz, Graz, Austria.
Plecko
Barbara
B
Lindbichler
Franz
F
Bittner
Reginald
R
Mache
Christoph J
CJ
Sperl
Wolfgang
W
Mayr
Johannes A
JA
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*
D018797:Cell Cycle Proteins; C405947:RRM2B protein, human; D012264:Ribonucleotide Reductases