PloS one, 2011-11, Vol.6 (11), p.e27348-e27348
2011
Details
- Autor(en) / Beteiligte
- Titel
- A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
- Ist Teil von
- PloS one, 2011-11, Vol.6 (11), p.e27348-e27348
- Ort / Verlag
- United States: Public Library of Science
- Erscheinungsjahr
- 2011
- Link zum Volltext
- Quelle
- EZB Electronic Journals Library
- Beschreibungen/Notizen
- Hydroxysteroid (17beta) dehydrogenase 10 (HSD10) is a mitochondrial multifunctional enzyme encoded by the HSD17B10 gene. Missense mutations in this gene result in HSD10 deficiency, whereas a silent mutation results in mental retardation, X-linked, syndromic 10 (MRXS10). Here we report a novel missense mutation found in the HSD17B10 gene, namely c.194T>C transition (rs104886492), brought about by the loss of two forked methyl groups of valine 65 in the HSD10 active site. The affected boy, who possesses mutant HSD10 (p.V65A), has a neurological syndrome with metabolic derangements, choreoathetosis, refractory epilepsy and learning disability. He has no history of acute decompensation or metabolic acidosis whereas his urine organic acid profile, showing elevated levels of 2-methyl-3-hydroxybutyrate and tiglylglycine, is characteristic of HSD10 deficiency. His HSD10 activity was much lower than the normal control level, with normal β-ketothiolase activity. The c.194T>C mutation in HSD17B10 can be identified by the restriction fragment polymorphism analysis, thereby facilitating the screening of this novel mutation in individuals with intellectual disability of unknown etiology and their family members much easier. The patient's mother is an asymptomatic carrier, and has a mixed ancestry (Hawaiian, Japanese and Chinese). This demonstrates that HSD10 deficiency patients are not confined to a particular ethnicity although previously reported cases were either Spanish or German descendants.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1932-6203eISSN: 1932-6203DOI: 10.1371/journal.pone.0027348Titel-ID: cdi_plos_journals_1310229265
- Format
- –
- Schlagworte
- 3-Hydroxyacyl CoA Dehydrogenases - chemistry, 3-Hydroxyacyl CoA Dehydrogenases - genetics, Acidosis, Adult, Age, Alzheimer's disease, Alzheimers disease, Amino Acid Sequence, Amino acids, Athetosis - complications, Athetosis - enzymology, Athetosis - genetics, Athetosis - urine, Base Sequence, Biology, Brain research, Carboxylic Acids - urine, Child, Child, Preschool, Chorea - complications, Chorea - enzymology, Chorea - genetics, Chorea - urine, Choreoathetosis, Dehydrogenases, Development and progression, Developmental disabilities, DNA Mutational Analysis, Electroencephalography, Electron Transport, Enzymes, Epilepsy, Epilepsy - complications, Epilepsy - enzymology, Epilepsy - genetics, Epilepsy - urine, Etiology, Family medical history, Female, Fibroblasts - enzymology, Genes, Genetic aspects, Humans, Infant, Newborn, Intellectual disabilities, Learning disabilities, Learning disorders, Learning Disorders - complications, Learning Disorders - enzymology, Learning Disorders - genetics, Learning Disorders - urine, Male, Medicine, Mental disorders, Mental illness, Metabolic acidosis, Metabolic Networks and Pathways, Metabolism, Minority & ethnic groups, Missense mutation, Mitochondria, Mitochondria - enzymology, Molecular Sequence Data, Mutation, Mutation - genetics, Neurochemistry, NMR, Nuclear magnetic resonance, Pediatrics, Polymorphism, Polymorphism, Restriction Fragment Length, Pregnancy, Proteins, Urine, Valine