A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy

作者：Acham Roschitz Birgit; Plecko Barbara^*; Lindbichler Franz; Bittner Reginald; Mache Christoph J; Sperl Wolfgang; Mayr Johannes A

来源：Molecular Genetics and Metabolism, 2009, 98(3): 300-304.

DOI：10.1016/j.ymgme.2009.06.012

• RRM2B-mutation
• Infant
• Encephalomyopathy
• Central hypomyelination
• 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.

• 出版日期2009-11