Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.
Animal model
Dysmyelination
Electrodiagnostic testing
Genetic
Genocopies
Histopathology
Journal
Neuromuscular disorders : NMD
ISSN: 1873-2364
Titre abrégé: Neuromuscul Disord
Pays: England
ID NLM: 9111470
Informations de publication
Date de publication:
08 2023
08 2023
Historique:
received:
23
03
2023
revised:
06
06
2023
accepted:
19
06
2023
pmc-release:
01
08
2024
medline:
31
8
2023
pubmed:
4
7
2023
entrez:
3
7
2023
Statut:
ppublish
Résumé
Congenital hypomyelinating polyneuropathy (HPN) restricted to the peripheral nervous system was reported in 1989 in two Golden Retriever (GR) littermates. Recently, four additional cases of congenital HPN in young, unrelated GRs were diagnosed via neurological examination, electrodiagnostic evaluation, and peripheral nerve pathology. Whole-genome sequencing was performed on all four GRs, and variants from each dog were compared to variants found across >1,000 other dogs, all presumably unaffected with HPN. Likely causative variants were identified for each HPN-affected GR. Two cases shared a homozygous splice donor site variant in MTMR2, with a stop codon introduced within six codons following the inclusion of the intron. One case had a heterozygous MPZ isoleucine to threonine substitution. The last case had a homozygous SH3TC2 nonsense variant predicted to truncate approximately one-half of the protein. Haplotype analysis using 524 GR established the novelty of the identified variants. Each variant occurs within genes that are associated with the human Charcot-Marie-Tooth (CMT) group of heterogeneous diseases, affecting the peripheral nervous system. Testing a large GR population (n = >200) did not identify any dogs with these variants. Although these variants are rare within the general GR population, breeders should be cautious to avoid propagating these alleles.
Identifiants
pubmed: 37400349
pii: S0960-8966(23)00155-4
doi: 10.1016/j.nmd.2023.06.007
pmc: PMC10530471
mid: NIHMS1914242
pii:
doi:
Substances chimiques
Proteins
0
MTMR2 protein, human
EC 3.1.3.48
Protein Tyrosine Phosphatases, Non-Receptor
EC 3.1.3.48
SH3TC2 protein, human
0
Intracellular Signaling Peptides and Proteins
0
MPZ protein, human
0
Myelin P0 Protein
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
677-691Subventions
Organisme : NIH HHS
ID : K01 OD027051
Pays : United States
Organisme : NIH HHS
ID : K01 OD027058
Pays : United States
Informations de copyright
Copyright © 2023 The Author(s). Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None for any authors or co-authors on “Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in Golden Retrievers with congenital hypomyelinating polyneuropathy” by Cook, et al. declare any conflicts of interest.
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