title: Pantothenate kinase-associated neurodegeneration (PKAN): molecular confirmation of a Turkish patient with a rare frameshift mutation in the coding region of the PANK2 gene.
abstract: Here we report the clinical, neuroimaging, and molecular findings of a classic pantothenate kinase-associated neurodegeneration (PKAN) patient of Turkish origin. Our patient is the first reported case of PKAN in Turkey with molecular genetic confirmation of the diagnosis. The frameshift mutation c.821_822delCT of the PANK2 gene detected in our patient has only been described in such classic patients to date, and our case provides further evidence of the association of this mutation with the classic PKAN phenotype. Since this mutation is a rare disease-causing mutation in other populations, further studies of more Turkish PKAN patients will show if it is the result of a founder effect in this population. In our case, molecular diagnosis allowed accurate prenatal genetic testing and counseling for this family. This case report highlights the importance of magnetic resonance imaging and molecular investigation in children who have progressive neurodegenerative symptoms of parkinsonism, dystonia, pyramidal features, and dementia.
authors.affiliation: Department of Medical Genetics, Uludağ University Faculty of Medicine, Bursa, Turkey.
authors.forename: Hakan
authors.initials: H
authors.lastname: Cangül
authors.forename: Ozlem
authors.initials: O
authors.lastname: Ozdemir
authors.forename: Tahsin
authors.initials: T
authors.lastname: Yakut
authors.forename: Mehmet
authors.initials: M
authors.lastname: Okan
authors.forename: Neil V
authors.initials: NV
authors.lastname: Morgan
authors.forename: Birol
authors.initials: B
authors.lastname: Baytan
authors.forename: Manju A
authors.initials: MA
authors.lastname: Kurian
authors.forename: Ronald
authors.initials: R
authors.lastname: Spiegel
authors.forename: Eamonn R
authors.initials: ER
authors.lastname: Maher
mesh_terms: D002648:Child; D016368:Frameshift Mutation; D005817:Genetic Counseling; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D025202:Molecular Diagnostic Techniques; D006211:Pantothenate Kinase-Associated Neurodegeneration / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D017853:Phosphotransferases (Alcohol Group Acceptor) / Q000235:genetics*; D011296:Prenatal Diagnosis; D014421:Turkey
chemical_list: D017853:Phosphotransferases (Alcohol Group Acceptor); C023088:pantothenate kinase