Article
Novel mutation in HPRT1 causing a splicing error with multiple variations.
Nucleosides, nucleotides & nucleic acids - 2 Jan 2017
Baba Shimpei, Saito Takashi, Yamada Yasukazu, Takeshita Eri, Nomura Noriko, Yamada Kenichiro, Wakamatsu Nobuaki, Sasaki Masayuki
Abstract excerpt
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...
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