Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease.

ABSTRACT: BACKGROUND:Charcot-Marie-Tooth disease (CMT) is one of the most commonly inherited neurological disorders. A growing number of genes, involved in glial and neuronal functions, have been associated with different subtypes of CMT leading to improved diagnostics and understanding of pathophysiological mechanisms. However, some patients and families remain genetically unsolved. METHODS:We report on a German family including four affected members over three generations with a CMT phenotype accompanied by cognitive deficits, predominantly with regard to visual abilities and episodic memory. RESULTS:A comprehensive clinical characterization followed by a sequential diagnostic approach disclosed a heterozygous rare SEPT9 missense variant c.1406 T > C, p.(Val469Ala), that segregates with disease. S

SUBMITTER: Grosse GM 

PROVIDER: S-EPMC7050135 | biostudies-literature | 2020 Mar

REPOSITORIES: biostudies-literature