Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.
Adolescent
Adult
Age of Onset
Aged
Cerebrospinal Fluid Proteins
/ analysis
Charcot-Marie-Tooth Disease
/ genetics
Child
Child, Preschool
Cranial Nerves
/ physiology
Creatine Kinase
/ analysis
Female
Genetic Predisposition to Disease
Genetic Variation
Humans
Infant, Newborn
Japan
Male
Middle Aged
Mutation
Myelin P0 Protein
/ genetics
Retrospective Studies
Young Adult
Charcot-Marie-Tooth disease
cerebrospinal fluid protein
cranial nerve involvement
creatine kinase
myelin P0 protein
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
08
08
2020
revised:
04
11
2020
accepted:
04
11
2020
pubmed:
13
11
2020
medline:
1
1
2022
entrez:
12
11
2020
Statut:
ppublish
Résumé
We aimed to reveal the genetic features associated with MPZ variants in Japan. From April 2007 to August 2017, 64 patients with 23 reported MPZ variants and 21 patients with 17 novel MPZ variants were investigated retrospectively. Variation in MPZ variants and the pathogenicity of novel variants was examined according to the American College of Medical Genetics standards and guidelines. Age of onset, cranial nerve involvement, serum creatine kinase (CK), and cerebrospinal fluid (CSF) protein were also analyzed. We identified 64 CMT patients with reported MPZ variants. The common variants observed in Japan were different from those observed in other countries. We identified 11 novel pathogenic variants from 13 patients. Six novel MPZ variants in eight patients were classified as likely benign or uncertain significance. Cranial nerve involvement was confirmed in 20 patients. Of 30 patients in whom serum CK levels were evaluated, eight had elevated levels. Most of the patients had age of onset >20 years. In another subset of 30 patients, 18 had elevated CSF protein levels; four of these patients had spinal diseases and two had enlarged nerve root or cauda equina. Our results suggest genetic diversity across patients with MPZ variants.
Identifiants
pubmed: 33179255
doi: 10.1111/cge.13881
pmc: PMC7898366
doi:
Substances chimiques
Cerebrospinal Fluid Proteins
0
Myelin P0 Protein
0
Creatine Kinase
EC 2.7.3.2
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
359-375Informations de copyright
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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