Related Experiment Video
Updated: Jun 2, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Déjerine-Sottas syndrome with a silent nucleotide change of myelin protein zero gene
Federica Taioli1, Ilaria Cabrini, Tiziana Cavallaro
1Department of Neurological, Neuropsychological, Morphological and Movement Sciences, University of Verona, Verona, Italy.
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.
More Related Videos
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
06:49A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS
Published on: October 6, 2015
Related Concept Videos
Nervous Tissue: Myelin
Schwann cells begin to form myelin sheaths around axons during fetal development. They wrap around a small...
Myasthenia Gravis ll: Pathophysiology
Animal Mitochondrial Genetics
Huntington Disease l: Introduction
Pleiotropy
Sex-linked Disorders