OMIA 002578-9913 : Mast cell tumour, congenital in Bos taurus

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

History: Jacinto et al. (2022) "reported the clinical, pathological and genetic findings of a Holstein calf that had multiple cutaneous and visceral poorly differentiated embryonal mast cell tumors consistent with a form of congenital mast cell tumor."

Molecular basis: Jacinto et al. (2022): "Whole-genome sequencing [of the affected calf and its sire and dam] revealed . . . a private X-linked variant in the PLP2 gene (chrX:87216480C > T; c.50C > T), which was present only in the genomes of the case (hemizygous) and his mother (heterozygous). It was absent in the sire as well as in 5365 control genomes. The identified missense variant exchanges the encoded amino acid of PLP2 at position 17 (p.Thr17Ile), which is classified as deleterious and affects a protein that plays a role in tumor growth and metastasis. Therefore, we suggested that the detected PLPL2 variant could be a plausible cause for this congenital condition in the affected calf."

Clinical features: Jacinto et al. (2022): "An 18-day-old male Holstein calf was clinically examined and revealed multifocal, alopecic, thick and wrinkled skin lesions over the entire body. At 6 months of age, the general condition of the calf was characterized by retarded growth, poor nutritional status, and ulceration of the skin lesions."

Pathology: Jacinto et al. (2022): "Histopathological examination revealed a primary cutaneous, poorly differentiated embryonal mast cell tumor with metastases in the lymph nodes and liver."

Breed: Holstein.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
PLP2 proteolipid protein 2 (colonic epithelium-enriched) Bos taurus X NC_037357.1 (87216347..87219386) PLP2 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 Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1493 Holstein Mast cell tumour, congenital PLP2 missense Naturally occurring variant ARS-UCD1.2 X g.87216480C>T c.50C>T p.(T17I) NM_203363.1; XP_005642144.1 2022 36139188

Reference


2022 Jacinto, J.G.P., Muscatello, L.V., Häfliger, I.M., Benazzi, C., Bolcato, M., Gentile, A., Drögemüller, C. :
A Missense Variant in PLP2 in Holstein Cattle with X-Linked Congenital Mast Cell Tumor. Animals (Basel) 12:, 2022. Pubmed reference: 36139188. DOI: 10.3390/ani12182329.

Edit History


  • Created by Frank Nicholas on 27 Sep 2022
  • Changed by Frank Nicholas on 27 Sep 2022