Hypomyelinating leukodystrophy associated with a deleterious mutation in the ATRN gene
| Autor: | Orly Elpeleg, Motee Ashhab, Bassam Abu-Libdeh, Michal Gur, Maher Shahrour, Simon Edvardson |
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| Rok vydání: | 2017 |
| Předmět: |
Male
0301 basic medicine Pelizaeus-Merzbacher Disease Mutant Central nervous system Biology medicine.disease_cause Nerve Fibers Myelinated 03 medical and health sciences Cellular and Molecular Neuroscience 0302 clinical medicine Genetics medicine Humans Exome Gene Genetics (clinical) Mutation Homozygote Leukodystrophy Brain Membrane Proteins medicine.disease Introns Hypotonia Human genetics Phenotype 030104 developmental biology medicine.anatomical_structure Muscle Hypotonia Female medicine.symptom 030217 neurology & neurosurgery |
| Zdroj: | neurogenetics. 18:135-139 |
| ISSN: | 1364-6753 1364-6745 |
| Popis: | Hypomyelinating leukodystrophies are a group of neurodevelopmental disorders that affect proper formation of the myelin sheath in the central nervous system. They are characterized by developmental delay, hypotonia, spasticity, and variable intellectual disability. We used whole exome analysis to study the molecular basis of hypomyelinating leukodystrophy in two sibs from a consanguineous family. A homozygous mutation, c.3068+5G>A, was identified in the ATRN gene, with the consequent insertion of an intronic sequence into the patients' cDNA and a predicted premature termination of the ATRN polypeptide. ATRN encodes Attractin, which was previously shown to play a critical role in central myelination. Several spontaneous ATRN rodent mutants exhibited impaired myelination which was attributed to oxidative stress and accelerated apoptosis. ATRN can now be added to the growing list of genes associated with hypomyelinating leukodystrophy. The disease seems to be confined to the CNS; however, given the young age of our patients, longer follow-up may be required. |
| Databáze: | OpenAIRE |
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