title: Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.
abstract: A gene for X-linked congenital cerebellar hypoplasia was recently localized to chromosome Xp11.21-q24. This region comprises several brain-specific genes responsible for various neurological disorders, including the proteolipid protein (PLP), doublecortin, and PAK3 genes. We screened these genes for mutations in patients with X-linked congenital cerebellar hypoplasia and found no pathogenic nucleotide changes or gene dose alterations. These findings allow the ruling out of PLP, doublecortin, and PAK3 as the disease-causing genes in this hereditary neurological syndrome.
authors.affiliation: Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow. neurolog@aha.ru
authors.forename: S N
authors.initials: SN
authors.lastname: Illarioshkin
authors.forename: K M
authors.initials: KM
authors.lastname: Allen
authors.forename: J G
authors.initials: JG
authors.lastname: Gleeson
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
authors.forename: T
authors.initials: T
authors.lastname: Ikeuchi
authors.forename: E D
authors.initials: ED
authors.lastname: Markova
authors.forename: C A
authors.initials: CA
authors.lastname: Walsh
authors.forename: I A
authors.initials: IA
authors.lastname: Ivanova-Smolenskaya
mesh_terms: D002531:Cerebellum / Q000002:abnormalities*; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D000089622:Doublecortin Domain Proteins; D005091:Exons / Q000235:genetics; D018628:Gene Dosage; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008869:Microtubule-Associated Proteins; D018991:Myelin Proteolipid Protein / Q000235:genetics; D009479:Neuropeptides / Q000235:genetics; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D014960:X Chromosome / Q000235:genetics; D054462:p21-Activated Kinases
chemical_list: D000089622:Doublecortin Domain Proteins; D008869:Microtubule-Associated Proteins; D018991:Myelin Proteolipid Protein; D009479:Neuropeptides; C515911:PAK3 protein, human; D017346:Protein Serine-Threonine Kinases; D054462:p21-Activated Kinases