New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient

ConclusionCMTX5 is probably under ‐diagnosed, as an overlap among the different features due toPRPS1 exists. Patients who developed polyneuropathy associated to sensorineural deafness and optic atrophy during childhood should be assessed forPRPS1.

Source: Molecular Genetics & Genomic Medicine - July 22, 2019 Category: Genetics & Stem Cells Authors: Justine Lerat, Corinne Magdelaine, Paco Derouault, H élène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia Tags: ORIGINAL ARTICLE Source Type: research