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Novel mutation in the human HPRT1 gene and the Lesch-Nyhan disease.

Nucleosides Nucleotides Nucleic Acids. 2017 Nov 02;36(11):704-711. doi:10.1080/15257770.2017.1395037. Epub 2017 Nov 29
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摘要

Lesch-Nyhan disease (LND) is a rare X-linked inherited neurogenetic disorder of purine metabolism in which the enzyme, hypoxanthine-guanine phosphoribosyltransferase (HGprt) is defective. The authors report a novel point mutation that led to HGprt-related neurological dysfunction (HND) in a family in which there was a missense mutation in exon 6 of the coding region of the HPRT1 gene: g.34938G>T, c.403G>T, p.D135Y. Molecular diagnosis is consistent with the genetic heterogeneity of the HPRT1 gene responsible for HGprt deficiency. It allows fast, accurate carrier detection and genetic counseling.

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