title: Neuronal ceroid lipofuscinosis in Qatar: report of a novel mutation in ceroid-lipofuscinosis, neuronal 5 in the Arab population.
abstract: This study sought to genetically define the first family diagnosed with neuronal ceroid lipofuscinosis from Qatar. Onset was in late infancy (3 years), and sequencing in the affected children revealed a novel homozygous c.613C>T change in exon 3 of ceroid-lipofuscinosis, neuronal 5, corresponding to a missense mutation of a conserved amino acid, p.Pro205Ser. The clinical manifestations of the disease in this family largely resemble those of ceroid-lipofuscinosis, neuronal 5 disease, variant late infantile that was first described in Finland and include mental decline, visual deterioration, ataxia, and epileptic seizures. This description of ceroid-lipofuscinosis, neuronal 5 disease in an Arab family adds to the clinical and molecular diversity of the variant late-infantile neuronal ceroid lipofuscinoses, which were originally reported in Europe and are increasingly recognized in other populations.
authors: Molecular Genetics Laboratory, Hamad Medical Corporation, Doha, Qatar.
authors: Moza K
authors: MK
authors: Al-Kowari
authors: Sara
authors: S
authors: Hassan
authors: Mahmoud F
authors: MF
authors: El-Said
authors: Tawfeg
authors: T
authors: Ben-Omran
authors: Lars
authors: L
authors: Hedin
authors: Sara E
authors: SE
authors: Mole
authors: Ramin
authors: R
authors: Badii
mesh_terms: D000293:Adolescent; D000818:Animals; D002648:Child; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000235:genetics; D011392:Proline / Q000235:genetics; D011780:Qatar / Q000208:ethnology; D016415:Sequence Alignment / Q000379:methods; D012694:Serine / Q000235:genetics
chemical_list: C113332:CLN5 protein, human; D051907:Lysosomal Membrane Proteins; D008565:Membrane Proteins; D012694:Serine; D011392:Proline