A Novel Missense Mutation of Doublecortin: Mutation Analysis of Korean Patients with Subcortical Band Heterotopia.
10.3346/jkms.2005.20.4.670
- Author:
Myeong Kyu KIM
1
;
Man Seok PARK
;
Byeong Chae KIM
;
Ki Hyun CHO
;
Young Seon KIM
;
Jin Hee KIM
;
Min Cheol LEE
;
Tag HEO
;
Eun Young KIM
Author Information
1. Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
- Publication Type:Case Reports ; Research Support, Non-U.S. Gov't
- Keywords:
doublecortin protein;
Subcortical Band Heterotopia;
Mutation;
Epilepsy
- MeSH:
Adolescent;
Adult;
Base Sequence;
Brain Diseases/*genetics/pathology;
*Cerebral Cortex;
Choristoma/*genetics/pathology;
DNA Mutational Analysis;
Female;
Humans;
Magnetic Resonance Imaging;
Microtubule-Associated Proteins/*genetics;
*Mutation, Missense;
Neuropeptides/*genetics;
Research Support, Non-U.S. Gov't
- From:Journal of Korean Medical Science
2005;20(4):670-673
- CountryRepublic of Korea
- Language:English
-
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.
