OMIA:001472-9541 : Neuronal ceroid lipofuscinosis, 2 in Macaca fascicularis
Categories: Lysosomal storage disease , Nervous system phene
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 204500 (trait) , 607998 (gene) , 609270 (trait)
Links to MONDO diseases:
Mendelian trait/disorder: yes
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: CLN2
Molecular basis: Munesue et al. (2023): "DNA sequencing analysis identified a homozygous single-base deletion (c.42delC) of the CLN2/TPP1 gene, resulting in a frameshifted premature stop codon."
Clinical features: Munesue et al. (2023): "Three cynomolgus macaques presented progressive neuronal clinical symptoms such as limb tremors and gait disturbance after about 2 years of age. Morphological analyses using brain MRI at the endpoint of approximately 3 years of age revealed marked cerebellar and cerebral atrophy of the gray matter, with sulcus dilation, gyrus thinning, and ventricular enlargement."
Pathology: Munesue et al. (2023): "Histopathological analyses of three affected macaques revealed severe neuronal loss and degeneration in the cerebellar and cerebral cortices, accompanied by glial activation and/or changes in axonal morphology. Neurons observed throughout the central nervous system contained autofluorescent cytoplasmic pigments, which were identified as ceroid-lipofuscin based on staining properties, and the cerebral cortex examined by transmission electron microscopy had curvilinear profiles, the typical ultrastructural pattern of CLN2. ... Immunohistochemical analysis showed that tissue from the affected macaques lacked a detectable signal against TPP1, the product of the CLN2/TPP1 gene."
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|TPP1||tripeptidyl peptidase I||Macaca fascicularis||14||NC_052268.1 (66666427..66659786)||TPP1||Homologene, Ensembl , NCBI gene|
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WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.
Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.
|OMIA Variant ID||Breed(s)||Variant Phenotype||Gene||Allele||Type of Variant||Source of Genetic Variant||Reference Sequence||Chr.||g. or m.||c. or n.||p.||Verbal Description||EVA ID||Inferred EVA rsID||Year Published||PubMed ID(s)||Acknowledgements|
|1538||Neuronal ceroid lipofuscinosis, 2||TPP1||deletion, small (<=20)||Naturally occurring variant||c.42delC||p.(L15Sfs*33)||2023||36918063|
|2023||Munesue, Y., Ageyama, N., Kimura, N., Takahashi, I., Nakayama, S., Okabayashi, S., Katakai, Y., Koie, H., Yagami, K.I., Ishii, K., Tamaoka, A., Yasutomi, Y., Shimozawa, N. :|
|Cynomolgus macaque model of neuronal ceroid lipofuscinosis type 2 disease. Exp Neurol :114381, 2023. Pubmed reference: 36918063 . DOI: 10.1016/j.expneurol.2023.114381.|
- Changed by Imke Tammen2 on 17 Mar 2023
- Created by Imke Tammen2 on 17 Mar 2023