Lesch-Nyhan Variant Syndrome: Real-Time RT-PCR for mRNA Quantification in Variable Presentation in Three Affected Family Members

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....

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Bibliographic Details
Published in:Nucleosides, nucleotides & nucleic acids nucleotides & nucleic acids, 2012-08, Vol.31 (8), p.616-629
Main Authors: Nguyen, Khue Vu, Naviaux, Robert K., Paik, Kacie K., Nakayama, Tomohiro, Nyhan, William L.
Format: Article
Language:English
Subjects:
Aged
Child, Preschool
Family
Gene Expression
Genetic Association Studies
Genotype
HPRT
Humans
Hypoxanthine Phosphoribosyltransferase - genetics
Hypoxanthine Phosphoribosyltransferase - metabolism
Lesch-Nyhan syndrome
Lesch-Nyhan Syndrome - genetics
Lesch-Nyhan Syndrome - metabolism
Lesch-Nyhan variants
Male
Mutation
Open Reading Frames
PCR
Pedigree
Phenotype
Real-Time Polymerase Chain Reaction
real-time RT-PCR
Reverse Transcriptase Polymerase Chain Reaction
RNA, Messenger - analysis
sequencing
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Summary: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 manifesting parallel differences in enzymatic activities. This approach can be applied for understanding genotype-phenotype correlations for other human genetic diseases.
ISSN:1525-7770
1532-2335
DOI:10.1080/15257770.2012.714028