A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant.
Overview
- Division of Comparative Medicine, Oregon National Primate Research Center Oregon Health & Science University Beaverton Oregon USA
- Division of Genetics, Oregon National Primate Research Center Oregon Health & Science University Beaverton Oregon USA
Abstract
Background: Biallelic mutations in genes associated with α‐dystroglycan glycosylation manifest in a spectrum of conditions referred to as α‐dystroglycanopathies, including Walker–Warburg syndrome, which primarily disrupt brain, eye, and muscle development. While small‐animal models for the disease have been developed and described, the condition has not been documented in non‐human primates.
Methods: Three spontaneous cases of severe lissencephaly, microphthalmia, and congenital muscular contracture in infant rhesus macaques were investigated. Histological analysis was performed on brain, retina, and skeletal muscle tissue. Genomic sequencing and RT‐PCR were used to identify and validate the causative pathogenic variant.
Results: The genetic basis for disease was determined to be the result of a rare single nucleotide variant altering a canonical splice site in the POMT1 gene. Aberrant splicing was confirmed in affected monkeys and H&
Conclusions: Recapitulation of this clinical disease phenotype in a non‐human primate establishes the utility of rhesus macaques as a model for dystroglycanopathies, such as Walker–Warburg syndrome.
Reproduced under the paper's license (CC BY), from the paper cited above.
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Data
Data links
- ncbi.nlm.nih.gov/
sra , NCBI; found in “DATA AVAILABILITY STATEMENT”
Data availability statement
Genetic variant data is available through mGAP (https://
Reproduced under the paper's license (CC BY), from the paper cited above.
Versions
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Version 1, 27 September 2026: the first record
Recorded: type, language, journal, pages, dates, 8 authors, 6 keywords, 1 funder, 60 references, 2 RRIDs.
Cite
This paper
Nordlund, A., LaMendola, B., Crilly, N. P., Kittle, S., Ferguson, B. M., Lewis, A. D., Wall, J., & Peterson, S. M. (2026). A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant. Animal models and experimental medicine, 10.1002/
BibTeX
@article{nordlund2026rhe
author = {Nordlund, Anya and LaMendola, Brian and Crilly, Nathan P. and Kittle, Seth and Ferguson, Betsy M. and Lewis, Anne D. and Wall, Jeff and Peterson, Samuel M.},
title = {{A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant}},
journal = {Animal models and experimental medicine},
year = {2026},
month = aug,
pages = {10.1002/
publisher = {Wiley},
issn = {2096-5451},
doi = {10.1002/
url = {https://
pmid = {42638426},
pmcid = {PMC13504205}
}
RIS
TY - JOUR
AU - Nordlund, Anya
AU - LaMendola, Brian
AU - Crilly, Nathan P.
AU - Kittle, Seth
AU - Ferguson, Betsy M.
AU - Lewis, Anne D.
AU - Wall, Jeff
AU - Peterson, Samuel M.
TI - A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant
T2 - Animal models and experimental medicine
J2 - Animal Model Exp Med
PY - 2026
DA - 2026/
SP - 10.1002/
SN - 2096-5451
PB - Wiley
DO - 10.1002/
UR - https://
LA - en
ER -
CSL-JSON
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"URL": "https://
"language": "en",
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