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

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

Abstract Background CMTX5 is characterized by peripheral neuropathy, early‐onset sensorineural hearing impairment, and optic neuropathy. Only seven variants have been reported and no genotype‐phenotype correlations have yet been established. PRPS1 has a crystallographic structure, as it is composed...

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Bibliographic Details
Main Authors: Justine Lerat, Corinne Magdelaine, Paco Derouault, Hélène Beauvais‐Dzugan, Eric Bieth, Blandine Acket, Marie‐Christine Arne‐Bes, Franck Sturtz, Anne‐Sophie Lia
Format: Article
Language:English
Published: Wiley 2019-09-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Charcot‐marie‐tooth
deafness
neuropathy
NGS
PRPS1
Online Access:https://doi.org/10.1002/mgg3.875

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