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Updated: May 29, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Canavan disease: a novel mutation
Harald Schober1, Juerg Luetschg, Isabella Hoeliner
1Department of Pediatrics, Academic Teaching Hospital, Feldkirch, Austria. harald.schober@lkhf.at
Abstract:
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.
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