A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

6533b856fe1ef96bd12b273d

RESEARCH PRODUCT

A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy

Elisa Giorgio Federica Scalia Francesca Clementina Radio Everly Conway De Macario Mario Giuffrè Maria Vadalà Fabrizio Lo Celso Fabrizio Lo Celso Alberto J. L. Macario Massimiliano Oliveri Alfredo Brusco Vincenzo Antona Giovanni Corsello Francesco Cappello

subject

Mutation.Hereditary spastic paraplegia Protein subunit chaperoning system Mutation Missense Biology Molecular Dynamics Simulation medicine.disease_cause Catalysis Article Chaperonin Inorganic Chemistry lcsh:Chemistry Heat shock protein medicine Missense mutation Humans Physical and Theoretical Chemistry motor neuropathy Age of Onset Genetic variant Molecular Biology Gene lcsh:QH301-705.5 Spectroscopy Exome sequencing Myelin Sheath Genetic chaperonopathie Genetics Mutation genetic variants Organic Chemistry Infant Newborn General Medicine medicine.disease Phenotype Computer Science Applications CCT5; chaperoning system; chaperonins; genetic chaperonopathies; genetic variants; motor neuropathy; mutation Phenotype lcsh:Biology (General)lcsh:QD1-999 chaperonins Female CCT5 mutation Hereditary Sensory and Motor Neuropathy genetic chaperonopathies Chaperonin Containing TCP-1

description

Diseases associated with acquired or genetic defects in members of the chaperoning system (CS) are increasingly found and have been collectively termed chaperonopathies. Illustrative instances of genetic chaperonopathies involve the genes for chaperonins of Groups I (e.g., Heat shock protein 60, Hsp60) and II (e.g., Chaperonin Containing T-Complex polypeptide 1, CCT). Examples of the former are hypomyelinating leukodystrophy 4 (HLD4 or MitCHAP60) and hereditary spastic paraplegia (SPG13). A distal sensory mutilating neuropathy has been linked to a mutation [p.(His147Arg)] in subunit 5 of the CCT5 gene. Here, we describe a new possibly pathogenic variant [p.(Leu224Val)] of the same subunit but with a different phenotype. This yet undescribed disease affects a girl with early onset demyelinating neuropathy and a severe motor disability. By whole exome sequencing (WES), we identified a homozygous CCT5 c.670C&gt

year	journal	country	edition	language
2020-10-01	International Journal of Molecular Sciences

10.3390/ijms21207631 http://europepmc.org/articles/PMC7589105