title: Novel mutation in an Egyptian patient with infantile Canavan disease.
abstract: Canavan disease (CD) is a rare fatal childhood neurological autosomal recessive genetic disease caused by mutations in the ASPA gene, which lead to catalytic deficiency of the ASPA enzyme that catalyzes the deacetylation of NAA. It is a severe progressive leukodystrophy characterized by spongiform degeneration of the white matter of the brain. CD occurs frequently among Ashkenazi Jewish population, however it has been reported in many other ethnic groups with significantly lower frequency. Here, we report on a 2 year-old Egyptian child with severe CD who harbors a novel homozygous missense variant (c.91G > T, p.V31F) in the ASPA gene. The clinical, radiological, and molecular genetic profiles are reviewed in details.
authors.affiliation: Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain-Shams University, Cairo, 11665, Egypt. ozaki@med.asu.edu.eg.
authors.forename: Osama K
authors.initials: OK
authors.lastname: Zaki
authors.affiliation: Medical Genetics Unit, Pediatric Department, Faculty of Medicine, Ain-Shams University, Cairo, 11665, Egypt.
authors.forename: Heba S
authors.initials: HS
authors.lastname: El Abd
authors.affiliation: Department of Radiodiagnosis, Faculty of Medicine, Ain-Shams University, Cairo, Egypt.
authors.forename: Shaimaa A
authors.initials: SA
authors.lastname: Mohamed
authors.affiliation: Department of Health Sciences, Biomedical Program, Qatar University, Doha, Qatar. hatem.zayed@qu.edu.qa.
authors.forename: Hatem
authors.initials: H
authors.lastname: Zayed
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging*; D017825:Canavan Disease / Q000000981:diagnostic imaging / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004534:Egypt; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation
keywords: Aspartoacylase; Canavan disease; MRI; MRS; N-acetyl-aspartate