title: First Japanese variant of late infantile neuronal ceroid lipofuscinosis caused by novel CLN6 mutations.
abstract: The clinical phenotypes of neuronal ceroid lipofuscinoses (NCLs) have been determined based on the age of onset and clinical symptoms. NCLs with onset between age 2 and 4years are known as late infantile neuronal ceroid lipofuscinoses (LINCLs). The clinical features of LINCLs include visual loss and progressive myoclonus epilepsy (PME) characterized by myoclonus, seizures, ataxia, and both mental and motor deterioration. There have been reports of several genes associated with LINCLs, with mutations in the CLN6 gene reported to cause variant forms of LINCLs (vLINCLs). Here, we report the first Japanese vLINCL caused by novel CLN6 mutations, found in a patient diagnosed by whole-exome sequencing. Visual acuity in our patient was preserved until the early teens. It remains to be elucidated if preserved visual function is related to the novel mutations of CLN6. Our case reveals the efficacy of whole-exome sequencing for examination of PMEs and highlights the existence of the CLN6 mutation in the Japanese population.
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address: rsato@ped.med.tohoku.ac.jp.
authors.forename: Ryo
authors.initials: R
authors.lastname: Sato
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Takehiko
authors.initials: T
authors.lastname: Inui
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Wakaba
authors.initials: W
authors.lastname: Endo
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yukimune
authors.initials: Y
authors.lastname: Okubo
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan; Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: Yusuke
authors.initials: Y
authors.lastname: Takezawa
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Mai
authors.initials: M
authors.lastname: Anzai
authors.affiliation: Departmetn of Pediatrics, Fukushima Rehabilitation Center for Children, Koriyama, Japan.
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Morita
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, Sendai, Japan.
authors.forename: Kazuhiro
authors.initials: K
authors.lastname: Haginoya
mesh_terms: D000293:Adolescent; D044466:Asian People / Q000235:genetics; D001921:Brain / Q000000981:diagnostic imaging / Q000503:physiopathology; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D004569:Electroencephalography; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D017386:Sequence Homology, Amino Acid
chemical_list: C447500:CLN6 protein, human; D008565:Membrane Proteins
keywords: CLN6; Late infantile neuronal ceroid lipofudcinosis; Whole-exome sequencing