Homozygous Paternally Inherited

Canavan disease is an autosomal recessive disorder that causes accumulation of N-acetyl ASPArtic acid in the brain due to ASPArtoacylase deficiency with homozygous or compound heterozygous pathogenic variants in the A one-year-old female case was evaluated in our medical genetics clinic for hypotonia, nystagmus, and strabismus. Chromosome analysis and array-comparative genomic hybridization showed no pathology. Clinical exome sequencing by next-generation sequencing was performed and a homozygous likely pathogenic variant NM_000049.4( In this report, we aimed to present the first case of Canavan disease with maternal loss of heterozygosity in the

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Déclaration de conflit d'intérêts

The authors have no conflicts of interest to declare.