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- W2040873658 abstract "Charcot‐Marie‐Tooth disease type 1B (CMT1B) and Déjerine‐Sottas syndrome type B (DSSB) are caused by missense or frameshift mutations of myelin protein zero ( MPZ ) gene. We identified an apparently silent synonymous c.411C>T transition in MPZ exon 3 (p.Gly137Gly) which segregated with DSS in a two‐generation pedigree. Retro‐transcriptional analysis of MPZ in the proband's archive sural nerve biopsy identified an r.410_448del mutant transcript which resulted from an activated cryptic splice site in exon 3 and led to an in‐frame partial deletion of exon 3 (p.Gly137_Lys149del). Quantitative real‐time polymerase chain reaction (QRT‐PCR) compared with two unrelated CMT1B nerves carrying a frameshift c.306delA mutation (p.Asp104ThrfsX13) indicated that the r.410_448del was stable differing from the p.Asp104ThrfsX13‐associated transcript which was subjected to nonsense‐mediated decay. The report highlighted the possible pathogenic role of synonymous MPZ mutations and difficulties in interpreting results from routine mutational screenings." @default.
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- W2040873658 date "2011-03-01" @default.
- W2040873658 modified "2023-10-17" @default.
- W2040873658 title "Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene" @default.
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- W2040873658 doi "https://doi.org/10.1111/j.1529-8027.2011.00319.x" @default.
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