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Lesch-Nyhan variant syndrome: real-time rt-PCR for mRNA quantification in variable presentation in three affected family members.

Nucleosides, nucleotides & nucleic acids - 1 Jan 2012

Nguyen Khue Vu, Naviaux Robert K, Paik Kacie K, Nakayama Tomohiro, Nyhan William L

Abstract excerpt

Inherited mutations of hypoxanthine guanine phosphoribosyltransferase (HPRT) give rise to Lesch-Nyhan syndrome (LNS) or variants (LNV). We report molecular insights from real-time RT-PCR for HPRT mRNA quantification into the mechanism by which a single mutation located in exon 7 of the HPRT gene: c.500G>T, p.R167M, led to different clinical phenotypes from three male LNV-affected patients in the same family...

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PMID: 22908952
DOI: 10.1080/15257770.2012.714028

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