A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.
The doublecortin (DCX) gene was recently found to be involved in patients with X-linked lissencephaly and subcortical band heterotopia or double cortex syndrome. We have studied the coding regions of the DCX gene in 11 Japanese patients with cortical dysplasia and have identified three different mutations (R186C in exon 3, R272X and R303X in exon 5) in four sporadic female cases. R272X, which has been detected in two unrelated cases, is a novel mutation. Although the number of cases studied remains limited, exon 5 may be a common mutational site in Japanese patients in contrast to many previous reports concerning exons 2 and 3.
Kato
M
M
Department of Pediatrics, Yamagata University School of Medicine, Japan. mkato@med.id.yamagata-u.ac.jp
Kimura
T
T
Lin
C
C
Ito
A
A
Kodama
S
S
Morikawa
T
T
Soga
T
T
Hayasaka
K
K
D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities*; D018388:Codon, Terminator; D017931:DNA Primers; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D004827:Epilepsy / Q000235:genetics*; D005091:Exons; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007564:Japan; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome; D014960:X Chromosome
D018388:Codon, Terminator; C000714328:DCX protein, human; D017931:DNA Primers; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; D010750:Phosphoproteins