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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: BACKGROUND, OBJECTIVE, METHODS, RESULTS. Meshes: Base Sequence, Codon, Nonsense, DNA Helicases, DNA, Complementary, Exodeoxyribonucleases, Facies, Gene Deletion, Heterozygote, Humans, Male, Middle Aged, Molecular Sequence Data, Mutation, RecQ Helicases, Reverse Transcriptase Polymerase Chain Reaction, Sequence Analysis, DNA, Werner Syndrome, Werner Syndrome Helicase.
user
Does a novel compound heterozygous mutation in Werner syndrome result in WRN transcript decay? Context: Werner syndrome (WS) is a rare autosomal recessive progeroid disorder caused by mutations of the WRN gene encoding a protein of the RecQ-type family of DNA helicases. To develop a rapid and simple reverse transcription-polymerase chain reaction (RT-PCR) strategy for mutation analysis of the WRN gene, to identify pathogenic mutations in a German patient with WS and to determine the effects of the pathogenic mutations on WRN mRNA stability. Allele-specific RT-PCR, semiquantitative RT-PCR, DNA sequencing. We describe a novel and rapid RT-PCR-based method for mutation analysis in WS and report a German patient with WS carrying a previously reported (1396delA) as well as a novel nonsense mutation (2334delAC) of the WRN gene. By semiquantitative RT-PCR analysis we demonstrate that this compound heterozygous genotype leads to WRN transcript decay.
assistant
In previous studies WS was primarily attributed to a loss of function of stable truncated WRN gene products. Our findings indicate that mutations can also lead to markedly decreased WRN transcript stability. Final Decision: yes