title: A novel missense mutation of doublecortin: mutation analysis of Korean patients with subcortical band heterotopia.
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.
authors.affiliation: Department of Neurology, Chonnam National University Medical School, Gwangju, Korea.
authors.forename: Myeong-Kyu
authors.initials: MK
authors.lastname: Kim
authors.forename: Man-Seok
authors.initials: MS
authors.lastname: Park
authors.forename: Byeong-Chae
authors.initials: BC
authors.lastname: Kim
authors.forename: Ki-Hyun
authors.initials: KH
authors.lastname: Cho
authors.forename: Young-Seon
authors.initials: YS
authors.lastname: Kim
authors.forename: Jin-Hee
authors.initials: JH
authors.lastname: Kim
authors.forename: Min-Cheol
authors.initials: MC
authors.lastname: Lee
authors.forename: Tag
authors.initials: T
authors.lastname: Heo
authors.forename: Eun-Young
authors.initials: EY
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D000328:Adult; D001483:Base Sequence; D001927:Brain Diseases / Q000235:genetics* / Q000473:pathology; D002540:Cerebral Cortex; D002828:Choristoma / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D020125:Mutation, Missense; D009479:Neuropeptides / Q000235:genetics*
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides