Mutation in the CHAC gene in a family of autosomal dominant chorea-acanthocytosis.
Although mutations in the CHAC gene have been identified in autosomal recessive chorea-acanthocytosis (AR-ChAc), the molecular basis of autosomal dominant ChAc (AD-ChAc) remains to be determined. The authors investigated abnormalities in the CHAC gene in an AD-ChAc family with mRNA and sequencing analyses of mRNA and genomic DNA. A novel single heterozygous mutation in the last nucleotide of exon 57 of the CHAC gene, which could cause skipping of the exon, was detected in affected siblings.
Saiki
S
S
Department of Neurology, Kanazawa Medical University, Ishikawa, Japan.
Sakai
K
K
Kitagawa
Y
Y
Saiki
M
M
Kataoka
S
S
Hirose
G
G
D000328:Adult; D002819:Chorea / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D006801:Humans; D008279:Magnetic Resonance Imaging; D009154:Mutation; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000032:analysis; D033921:Vesicular Transport Proteins
D011506:Proteins; D012333:RNA, Messenger; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins