OMIA 002065-9685 : Niemann-Pick disease, type C2 in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601015 (gene) , 607625 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2014

Molecular basis: Zampieri et al. (2014): "intronic mutation located 5 nt downstream of the canonical donor splice site of exon 1"; c.82+5G>A; "the mutation affects the splicing process causing the retention of 105 bp of intron 1 in the mature mRNA, which would lead to the in frame insertion of 35 amino acids between residues 28 and 29 of the NPC2 protein (p.G28_S29ins35)."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
NPC2 Niemann-Pick disease, type C2 Felis catus B3 NC_018728.3 (121873193..121864475) NPC2 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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
Niemann-Pick disease, type C2 NPC2 splicing Felis_catus_6.2 B3 g.120939103C>T c.82+5G>A p.(G28_S29ins35) 2014 25396745 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool


2014 Zampieri, S., Bianchi, E., Cantile, C., Saleri, R., Bembi, B., Dardis, A. :
Characterization of a spontaneous novel mutation in the NPC2 gene in a cat affected by Niemann Pick type C disease. PLoS One 9:e112503, 2014. Pubmed reference: 25396745. DOI: 10.1371/journal.pone.0112503.

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  • Created by Frank Nicholas on 29 Oct 2016