Molecular Characterization of a Deletion in the HPRT1 Gene in a Patient with Lesch–Nyhan Syndrome

A. Taniguchi Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan

Y. Yamada Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan

M. Hakoda Department of Nutritional Sciences, Faculty of Human Ecology, Yasuda Women's University, Hiroshima, Japan

C. Sekita Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan

M. Kawamoto Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan

H. Kaneko Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan

H. Yamanaka Institute of Rheumatology, Tokyo Women's Medical University, Shinjuku-ku, Tokyo, Japan

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Abstract

Lesch–Nyhan syndrome is caused by a deficiency of hypoxanthine phosphoribosyltransferase (HPRT) encoded by HPRT1. About 20% of patients have a deletion of HPRT1 and large deletions of HPRT1 are not always fully characterized at the molecular level. Here, we report on a case of Lesch–Nyhan syndrome with a 33-kb deletion involving exon 1 of HPRT1. This novel mutation is caused by a nonhomologous recombination between different classes of interspersed repetitive DNA.

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Molecular Characterization of a Deletion in the HPRT1 Gene in a Patient with Lesch–Nyhan Syndrome

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Molecular Characterization of a Deletion in the HPRT1 Gene in a Patient with Lesch–Nyhan Syndrome

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