A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy.

ABSTRACT: Standardization of the use of next-generation sequencing for the diagnosis of rare neurological disorders has made it possible to detect potential disease-causing genetic variations, including de novo variants. However, the lack of a clear pathogenic relevance of gene variants poses a critical limitation for translating this genetic information into clinical practice, increasing the necessity to perform functional assays. Genetic screening is currently recommended in the guidelines for diagnosis of hypomyelinating leukodystrophies (HLDs). HLDs represent a group of rare heterogeneous disorders that interfere with the myelination of the neurons in the central nervous system. One of the HLD-related genes is HSPD1, encoding the mitochondrial chaperone heat shock protein 60 (HSP60), whic

SUBMITTER: Comert C 

PROVIDER: S-EPMC7304351 | biostudies-literature | 2020 Jun

REPOSITORIES: biostudies-literature