A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia
Journal of Korean Medical Science
;
: 670-673, 2005.
Article
in English
| WPRIM
| ID: wpr-25778
ABSTRACT
The neuronal migration disorders, X-linked lissencephaly syndrome (XLIS) and subcortical band heterotopia (SBH), also called "double cortex", have been linked to missense, nonsense, aberrant splicing, deletion, and insertion mutations in doublecortin (DCX) in families and sporadic cases. Most DCX mutations identified to date are located in two evolutionarily conserved domains. We performed mutation analysis of DCX in two Korean patients with SBH. The SBH patients had mild to moderate developmental delays, drug-resistant generalized seizures, and diffuse thick SBH upon brain MRI. Sequence analysis of the DCX coding region in Patient 1 revealed a c.386 C>T change in exon 3. The sequence variation results in a serine to leucine amino acid change at position 129 (S129L), which has not been found in other family members of Patient 1 or in a large panel of 120 control X-chromosomes. We report here a novel c.386 C>T mutation of DCX that is responsible for SBH.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Neuropeptides
/
Brain Diseases
/
DNA Mutational Analysis
/
Magnetic Resonance Imaging
/
Base Sequence
/
Cerebral Cortex
/
Choristoma
/
Mutation, Missense
/
Microtubule-Associated Proteins
Limits:
Adolescent
/
Adult
/
Female
/
Humans
Language:
English
Journal:
Journal of Korean Medical Science
Year:
2005
Type:
Article
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