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A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy
- Source :
- Molecular Genetics and Metabolism. 98:300-304
- Publication Year :
- 2009
- Publisher :
- Elsevier BV, 2009.
-
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 1H 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.
- Subjects :
- Mitochondrial DNA
Pathology
medicine.medical_specialty
Mature messenger RNA
Endocrinology, Diabetes and Metabolism
Cell Cycle Proteins
Deafness
Biology
Biochemistry
Genetic analysis
Endocrinology
RRM2B Gene
Tubulopathy
Mitochondrial Encephalomyopathies
Ribonucleotide Reductases
Genetics
medicine
Humans
Genetic Predisposition to Disease
Allele
Muscle, Skeletal
Molecular Biology
Brain
Infant
medicine.disease
genomic DNA
Mutation
Female
Novel mutation
Subjects
Details
- ISSN :
- 10967192
- Volume :
- 98
- Database :
- OpenAIRE
- Journal :
- Molecular Genetics and Metabolism
- Accession number :
- edsair.doi.dedup.....5cbfd4b82b8f81697f016c483357c69b