title: Novel mutation in HPRT1 causing a splicing error with multiple variations.
abstract: Lesch-Nyhan disease (LND) is a rare X-linked recessive disorder caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), encoded by the HPRT1. To date, nearly all types of mutations have been reported in the whole gene; however, duplication mutations are rare. We here report the case of a 9-month-old boy with LND. He showed developmental delay, athetosis, and dystonic posture from early infancy, but no self-injurious behaviors. Hyperuricemia was detected, and his HPRT enzyme activity in erythrocytes was completely deficient. A novel duplication mutation (c.372dupT, c.372_374 TTT > c.372_375 TTTT) was identified in exon 4 of the HPRT1, which causes aberrant splicing. This is the third case of a duplication mutation in the HPRT1 that causes splicing error.
authors.affiliation: a Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan.
authors.forename: Shimpei
authors.initials: S
authors.lastname: Baba
authors.affiliation: a Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Saito
authors.affiliation: b Department of Genetics , Institute for Developmental Research, Aichi Human Service Center , Aichi , Japan.
authors.forename: Yasukazu
authors.initials: Y
authors.lastname: Yamada
authors.affiliation: a Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan.
authors.forename: Eri
authors.initials: E
authors.lastname: Takeshita
authors.affiliation: b Department of Genetics , Institute for Developmental Research, Aichi Human Service Center , Aichi , Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Nomura
authors.affiliation: b Department of Genetics , Institute for Developmental Research, Aichi Human Service Center , Aichi , Japan.
authors.forename: Kenichiro
authors.initials: K
authors.lastname: Yamada
authors.affiliation: b Department of Genetics , Institute for Developmental Research, Aichi Human Service Center , Aichi , Japan.
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Wakamatsu
authors.affiliation: a Department of Child Neurology , National Center Hospital, National Center of Neurology and Psychiatry (NCNP) , Tokyo , Japan.
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D004912:Erythrocytes / Q000201:enzymology; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics* / Q000378:metabolism; D007223:Infant; D007926:Lesch-Nyhan Syndrome / Q000209:etiology / Q000235:genetics*; D008297:Male; D009154:Mutation; D012326:RNA Splicing
chemical_list: D007041:Hypoxanthine Phosphoribosyltransferase
keywords: Duplication; HPRT; Lesch-Nyhan disease; mutation; splicing error