Genetic and histological study reveals a POMT1 splice variant causing alpha-dystroglycanopathy in infant rhesus macaques, highlighting a novel non-human primate disease model.
Key Points
To determine the genetic and pathological cause of spontaneous brain, eye, and muscular abnormalities in infant rhesus macaques.
Investigated three infant rhesus macaques (N=3) presenting with spontaneous severe lissencephaly, microphthalmia, and congenital muscular contracture.
Conducted histological analyses on brain, retina, and skeletal muscle tissue alongside genomic sequencing and RT-PCR validation.
Identified a rare single-nucleotide variant that alters a canonical splice site in the POMT1 gene, leading to aberrant mRNA splicing.
Histological staining confirmed severe cellular abnormalities across brain, eye, and skeletal muscle tissue characteristic of α-dystroglycanopathy.