title: Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report.
abstract: Arts syndrome is characterized by early-onset hypotonia, ataxia, intellectual disability, sensorineural hearing impairment, progressive optic atrophy, and a tendency to develop infections. Arts syndrome is an X-linked disorder caused by a loss-of-function mutation in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1. Only three families have been reported. Here, we report another family with Arts syndrome. The initial symptoms of the 1-year-old proband were hypotonia and ataxia, worsening recurrent infection-triggered muscle weakness, motor and intellectual developmental delay, and hearing loss. Both central nervous system involvement and peripheral neuropathy were demonstrated. His three maternal uncles had died before the age of 3years. A genetic analysis of PRPS1 revealed a novel missense mutation, c.367C>G (p.His123Asp). PRPS enzymatic activity was markedly reduced in the patient. His mother was supposed to be an asymptomatic carrier. Arts syndrome should be included in the differential diagnosis of infantile hypotonia and weakness aggravated by recurrent infection with a family history of X-linked inheritance.
authors.affiliation: Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan. Electronic address: maruyama@aichi-colony.jp.
authors.forename: Koichi
authors.initials: K
authors.lastname: Maruyama
authors.affiliation: Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Ogaya
authors.affiliation: Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
authors.forename: Naoko
authors.initials: N
authors.lastname: Kurahashi
authors.affiliation: Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Umemura
authors.affiliation: Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
authors.forename: Keitaro
authors.initials: K
authors.lastname: Yamada
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Akihiro
authors.initials: A
authors.lastname: Hashiguchi
authors.affiliation: Department of Neurology and Geriatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.affiliation: Department of Biochemistry, La Paz University Hospital, IdiPaz, Madrid, Spain; Center for Biomedical Network Research on Rare Diseases (CIBERER), ISCIII, Spain.
authors.forename: Rosa J
authors.initials: RJ
authors.lastname: Torres
authors.affiliation: Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan.
authors.forename: Kosaburo
authors.initials: K
authors.lastname: Aso
mesh_terms: D001259:Ataxia / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D001921:Brain / Q000000981:diagnostic imaging; D054062:Deaf-Blind Disorders / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D005190:Family; D040181:Genetic Diseases, X-Linked / Q000000981:diagnostic imaging / Q000235:genetics* / Q000503:physiopathology / Q000628:therapy; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D009431:Neural Conduction / Q000235:genetics; D010375:Pedigree; D012268:Ribose-Phosphate Pyrophosphokinase / Q000235:genetics*
chemical_list: C510474:PRPS1 protein, human; D012268:Ribose-Phosphate Pyrophosphokinase
keywords: Ataxia; Hearing impairment; Hypotonia; Recurrent infection; X-linked