RGD Reference Report - A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia. - Rat Genome Database
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A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia.

Authors: Kato, M  Kimura, T  Lin, C  Ito, A  Kodama, S  Morikawa, T  Soga, T  Hayasaka, K 
Citation: Kato M, etal., Hum Genet. 1999 Apr;104(4):341-4.
RGD ID: 12904717
Pubmed: (View Article at PubMed) PMID:10369164

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.

Annotation

Disease Annotations    

Objects Annotated

Genes (Rattus norvegicus)
Dcx  (doublecortin)

Genes (Mus musculus)
Dcx  (doublecortin)

Genes (Homo sapiens)
DCX  (doublecortin)


Additional Information