A recurrent de novo
Adult
Alleles
Amino Acid Sequence
Amino Acid Substitution
Chaperonin 10
/ genetics
Chaperonin 60
/ chemistry
Child
Female
Genetic Association Studies
/ methods
Genetic Predisposition to Disease
Genetic Variation
Genotype
Hereditary Central Nervous System Demyelinating Diseases
/ diagnosis
Humans
Infant
Magnetic Resonance Imaging
Male
Mitochondrial Diseases
/ diagnosis
Mitochondrial Proteins
/ chemistry
Models, Molecular
Mutation
Pregnancy Proteins
/ genetics
Protein Conformation
Recurrence
Structure-Activity Relationship
Suppressor Factors, Immunologic
/ genetics
abnormal CNS myelination
cerebral hypomyelination
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
06 2020
06 2020
Historique:
received:
20
12
2019
accepted:
23
03
2020
entrez:
14
6
2020
pubmed:
14
6
2020
medline:
29
5
2021
Statut:
epublish
Résumé
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
Identifiants
pubmed: 32532876
pii: mcs.a004879
doi: 10.1101/mcs.a004879
pmc: PMC7304351
pii:
doi:
Substances chimiques
Chaperonin 10
0
Chaperonin 60
0
HSPD1 protein, human
0
Mitochondrial Proteins
0
Pregnancy Proteins
0
Suppressor Factors, Immunologic
0
early pregnancy factor
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© 2020 Cömert et al.; Published by Cold Spring Harbor Laboratory Press.
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