PMID- 10369164
OWN - NLM
STAT- MEDLINE
DCOM- 19990625
LR  - 20211203
IS  - 0340-6717 (Print)
IS  - 0340-6717 (Linking)
VI  - 104
IP  - 4
DP  - 1999 Apr
TI  - A novel mutation of the doublecortin gene in Japanese patients with X-linked
      lissencephaly and subcortical band heterotopia.
PG  - 341-4
AB  - 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.
FAU - Kato, M
AU  - Kato M
AD  - Department of Pediatrics, Yamagata University School of Medicine, Japan.
      mkato@med.id.yamagata-u.ac.jp
FAU - Kimura, T
AU  - Kimura T
FAU - Lin, C
AU  - Lin C
FAU - Ito, A
AU  - Ito A
FAU - Kodama, S
AU  - Kodama S
FAU - Morikawa, T
AU  - Morikawa T
FAU - Soga, T
AU  - Soga T
FAU - Hayasaka, K
AU  - Hayasaka K
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - Hum Genet
JT  - Human genetics
JID - 7613873
RN  - 0 (Codon, Terminator)
RN  - 0 (DCX protein, human)
RN  - 0 (DNA Primers)
RN  - 0 (Doublecortin Domain Proteins)
RN  - 0 (Doublecortin Protein)
RN  - 0 (Microtubule-Associated Proteins)
RN  - 0 (Neuropeptides)
RN  - 0 (Phosphoproteins)
SB  - IM
MH  - Adolescent
MH  - Amino Acid Substitution
MH  - Base Sequence
MH  - Brain/*abnormalities
MH  - Codon, Terminator
MH  - DNA Primers
MH  - Doublecortin Domain Proteins
MH  - Doublecortin Protein
MH  - Epilepsy/*genetics
MH  - Exons
MH  - Female
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Japan
MH  - *Microtubule-Associated Proteins
MH  - Neuropeptides/*genetics
MH  - Phosphoproteins/genetics
MH  - Polymerase Chain Reaction
MH  - *Polymorphism, Single-Stranded Conformational
MH  - Syndrome
MH  - *X Chromosome
EDAT- 1999/06/16 00:00
MHDA- 1999/06/16 00:01
CRDT- 1999/06/16 00:00
PHST- 1999/06/16 00:00 [pubmed]
PHST- 1999/06/16 00:01 [medline]
PHST- 1999/06/16 00:00 [entrez]
AID - 10.1007/s004390050963 [doi]
PST - ppublish
SO  - Hum Genet. 1999 Apr;104(4):341-4. doi: 10.1007/s004390050963.