title: Identification of a novel homozygous SPG7 mutation in a Japanese patient with spastic ataxia: making an efficient diagnosis using exome sequencing for autosomal recessive cerebellar ataxia and spastic paraplegia.
abstract: Autosomal recessive cerebellar ataxias and autosomal recessive hereditary spastic paraplegias are clinically and genetically heterogeneous disorders with diverse neurological and non-neurological features. We herein describe a Japanese patient with a slowly progressive form of ataxia and spastic paraplegia. Using whole exome sequencing, we identified a novel homozygous frameshift mutation in SPG7, encoding paraplegin, in this patient. This is the first report of an SPG7 mutation in the Japanese population. For disorders previously undetected in a particular population, or unrecognized/atypical phenotypes, exome sequencing may facilitate molecular diagnosis.
authors.affiliation: Department of Human Genetics, Yokohama City University, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Doi
authors.forename: Chihiro
authors.initials: C
authors.lastname: Ohba
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.forename: Yuko
authors.initials: Y
authors.lastname: Kawamoto
authors.forename: Tamaki
authors.initials: T
authors.lastname: Yoshida
authors.forename: Shigeru
authors.initials: S
authors.lastname: Koyano
authors.forename: Yume
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Kuroiwa
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Tanaka
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D044466:Asian People / Q000235:genetics*; D059472:Exome / Q000235:genetics; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D008875:Middle Aged; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009896:Optic Atrophy / Q000175:diagnosis / Q000235:genetics*; D010264:Paraplegia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D017422:Sequence Analysis, DNA / Q000379:methods; D015419:Spastic Paraplegia, Hereditary / Q000175:diagnosis / Q000235:genetics*; D020754:Spinocerebellar Ataxias / Q000175:diagnosis / Q000235:genetics*
chemical_list: D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities