Canavan disease: a novel mutation
| Autor: | Burkhard Simma, Isabella Hoeliner, Harald Schober, Stefanie Kalb, Juerg Luetschg |
|---|---|
| Rok vydání: | 2011 |
| Předmět: |
Genetics
Canavan Disease Leukodystrophy DNA Mutational Analysis Infant Biology Gangliosidosis medicine.disease Compound heterozygosity Canavan disease Aspartoacylase Amidohydrolases Exon Developmental Neuroscience Neurology Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation medicine Humans Sphingolipidosis Female Neurology (clinical) |
| Zdroj: | Pediatric neurology. 45(4) |
| ISSN: | 1873-5150 |
| Popis: | Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.432G>A in exon 2, which has not yet been described in Canavan disease. |
| Databáze: | OpenAIRE |
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