Homozygous Paternally Inherited ASPA Variant in a Patient with Canavan Disease

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dc.contributor.authorYalcintepe, Sinem
dc.contributor.authorMaras, Tuba
dc.contributor.authorKizilyar, Ilke
dc.contributor.authorGuler, Hazal Sezginer
dc.contributor.authorZhuri, Drenushe
dc.contributor.authorAtli, Engin
dc.contributor.authorOzen, Yasemin
dc.date.accessioned2024-06-12T10:55:32Z
dc.date.available2024-06-12T10:55:32Z
dc.date.issued2024
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: 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 ASPA gene located on the short arm of chromosome 17. Clinical findings are hypotonia, progressive macrocephaly, deafness, nystagmus, blindness, and brain atrophy. Case Presentation: 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(ASPA):c.857C > A p.(Ala286Asp) was identified. Sanger sequencing of the parents showed that the index case had a homozygous genotype, the father was heterozygous and the mother had a wild genotype for the identified variant in ASPA. A single nucleotide polymorphism (SNP) array test was planned for the family to explain this homozygosity and a loss of maternal heterozygosity was determined in the 17p13.3-p13.2 region of the ASPA gene. Conclusion: In this report, we aimed to present the first case of Canavan disease with maternal loss of heterozygosity in the ASPA gene. (c) 2024 S. Karger AG, Baselen_US
dc.identifier.doi10.1159/000536386
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.scopus2-s2.0-85186069799en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.urihttps://doi.org/10.1159/000536386
dc.identifier.urihttps://hdl.handle.net/20.500.14551/19462
dc.identifier.wosWOS:001173974900001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectCanavan Diseaseen_US
dc.subjectASPAen_US
dc.subjectLoss Of Heterozygosityen_US
dc.subjectAspartoacylase Geneen_US
dc.subjectN-Acetylaspartateen_US
dc.subjectMutationen_US
dc.titleHomozygous Paternally Inherited ASPA Variant in a Patient with Canavan Diseaseen_US
dc.typeArticleen_US

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