title: Familial pachygyria in both genders related to a DCX mutation.
abstract: Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epilepsy and anterior dominant pachygyria without SBH in both genders. Two potential variants were found for the genes encoding DCX and beta tubulin isotype 1 (TUBB1). The novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual disability after gender matching. We report an unusual DCX-related disorder exhibiting familial pachygyria without SBH in both genders.
authors.affiliation: Department of Pediatrics, Chonnam National University Medical School, Gwangju, Republic of Korea; Research Institute of Medical Sciences, Chonnam National University, Gwangju, Republic of Korea. Electronic address: ik052@jnu.ac.kr.
authors.forename: Young Ok
authors.initials: YO
authors.lastname: Kim
authors.affiliation: Department of Neurology, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Tai-Seung
authors.initials: TS
authors.lastname: Nam
authors.affiliation: School of Biological Sciences and Technology, Chonnam National University, Gwangju, Republic of Korea.
authors.forename: Chungoo
authors.initials: C
authors.lastname: Park
authors.affiliation: Department of Radiology, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Seul Kee
authors.initials: SK
authors.lastname: Kim
authors.affiliation: Department of Radiology, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Woong
authors.initials: W
authors.lastname: Yoon
authors.affiliation: Research Institute of Medical Sciences, Chonnam National University, Gwangju, Republic of Korea; Department of Biomedical Sciences, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Seok-Yong
authors.initials: SY
authors.lastname: Choi
authors.affiliation: Department of Neurology, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Myeong-Kyu
authors.initials: MK
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Chonnam National University Medical School, Gwangju, Republic of Korea.
authors.forename: Young Jong
authors.initials: YJ
authors.lastname: Woo
mesh_terms: D000328:Adult; D000368:Aged; D002648:Child; D004252:DNA Mutational Analysis; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D004828:Epilepsies, Partial / Q000235:genetics / Q000503:physiopathology; D005192:Family Health; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000503:physiopathology; D054082:Lissencephaly / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008869:Microtubule-Associated Proteins / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D009479:Neuropeptides / Q000235:genetics*; D010375:Pedigree; D012720:Severity of Illness Index; D014404:Tubulin / Q000235:genetics; D055815:Young Adult
chemical_list: C000714328:DCX protein, human; D000089622:Doublecortin Domain Proteins; D000089662:Doublecortin Protein; D008869:Microtubule-Associated Proteins; D009479:Neuropeptides; C578986:TUBB1 protein, human; D014404:Tubulin
keywords: DCX; Focal seizures; Genetics; Intellectual disability; Pachygyria