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OMIA:001472-9541 : Neuronal ceroid lipofuscinosis, 2 in Macaca fascicularis (crab-eating macaque)

In other species: dog , pig

Categories: Lysosomal storage disease , Nervous system phene

Links to possible relevant human trait(s) and/or gene(s) in OMIM: 204500 (trait) , 607998 (gene) , 609270 (trait)

Links to relevant human diseases in MONDO:

Single-gene trait/disorder: yes

Disease-related: yes

Key variant known: yes

Year key variant first reported: 2023

Cross-species summary: One of several variants of neuronal ceroid lipofuscinosis (NCL) or Batten disease: CLN2; NCL2

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."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
TPP1 tripeptidyl peptidase I Macaca fascicularis 14 NC_088388.1 (59460998..59467648) TPP1 Homologene, Ensembl , NCBI gene

Variants

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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 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
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Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:001472-9541: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70

Reference

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 363:114381, 2023. Pubmed reference: 36918063. DOI: 10.1016/j.expneurol.2023.114381.

Edit History


  • Created by Imke Tammen2 on 17 Mar 2023
  • Changed by Imke Tammen2 on 17 Mar 2023