فهرست نشریات علمی دسترسی آزاد ایران

Backgroundcharcot marie tooth disease type 2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy. charcot marie tooth disease type 2k onset is in early childhood (younger than 3 years). this phenotype is characterized by foot deformities, kyphoscoliosis, distal limb muscle weakness and atrophy, areflexia, and diminished sensation in the lower limbs. weakness in the upper limbs is observed in the first decade, with clawing of the fingers. inheritance can be autosomal dominant or recessive. MethodWe sequenced the entire coding region and exon-intron boundaries of the GDAP1 gene in one individual using whole-exome sequencing (WES). Co-segregation analysis was also performed in the proband and mother using Sanger sequencing (the mother has incomplete penetrance). In addition, bioinformatic analyzes were performed to predict the probability and pathogenicity of the mutation.ResultsIn exon 6 of the GDAP1 gene, a novel deleterious heterozygous mutation c.830A > G; p. E277G was identified. ConclusionsWe surveyed the clinical and genetic features of this patient and recognized a novel pathogenic variant c.830A > G; p. E277G in the GDAP1 gene. according to the patient's symptoms, we identified a new type of pathogen. This is a missense mutation and its inheritance is autosomal dominant.