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.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.
Department of Medicine, Biochemical Genetics and Metabolism, The Mitochondrial and Metabolic Disease Center, School of Medicine, University of California San Diego, San Diego, California 92103-8467, USA. kvn006@ucsd.edu
Khue Vu
KV
Nguyen
Robert K
RK
Naviaux
Kacie K
KK
Paik
Tomohiro
T
Nakayama
William L
WL
Nyhan
D000368:Aged; D002675:Child, Preschool; D005190:Family; D015870:Gene Expression; D056726:Genetic Association Studies; D005838:Genotype; D006801:Humans; D007041:Hypoxanthine Phosphoribosyltransferase / Q000235:genetics* / Q000378:metabolism; D007926:Lesch-Nyhan Syndrome / Q000235:genetics* / Q000378:metabolism; D008297:Male; D009154:Mutation; D016366:Open Reading Frames; D010375:Pedigree; D010641:Phenotype; D012333:RNA, Messenger / Q000032:analysis; D060888:Real-Time Polymerase Chain Reaction; D020133:Reverse Transcriptase Polymerase Chain Reaction
D012333:RNA, Messenger; D007041:Hypoxanthine Phosphoribosyltransferase