Studies of the candidate genes in X-linked congenital cerebellar hypoplasia.
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.
Illarioshkin
S N
SN
Department of Neurogenetics, Institute of Neurology, Russian Academy of Medical Sciences, Moscow. neurolog@aha.ru
Allen
K M
KM
Gleeson
J G
JG
Tsuji
S
S
Ikeuchi
T
T
Markova
E D
ED
Walsh
C A
CA
Ivanova-Smolenskaya
I A
IA
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
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