OMIA:002287-9823 : Hypopigmentation and deafness in Sus scrofa (pig) |
Categories: Pigmentation phene
Links to possible relevant human trait(s) and/or gene(s) in OMIM: 172800 (trait) , 164920 (gene)
Mendelian trait/disorder: yes
Disease-related: yes
Key variant known: yes
Year key variant first reported: 2020
Molecular basis: Xu et al. (2020) reported a KIT variant "(c.2418T>A, p.Asp806Glu)" in a "pig pedigree which presented congenital bilateral severe sensorineural hearing loss and hypopigmentation", resulting from ENU mutagenesis.
Pathology: Xu et al. (2020): "Histological analysis showed nearly normal structures of the organ of Corti, stria vascularis (SV) and spiral neuron ganglions at E85. Scanning electron microscopy (SEM) exhibited that hair cells started to degenerate at E100, and totally gone at P1. Transmission electron microscope (TEM) showed disorganization of SV and disappearance of intermediate cells. The absence of endocochlear potentials also demonstrated the dysfunction of stria. Our study demonstrated that KIT mutation (c.2418T>A, p.Asp806Glu) interrupted the development of melanocytes in cochlea, which led to SV malformation and dysfunction, resulting in degeneration of hair cells and finally hearing loss."
Breed:
Bama Xiang Zhu, China (Pig) (VBO_0012741).
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).
Associated gene:
| Symbol | Description | Species | Chr | Location | OMIA gene details page | Other Links |
|---|---|---|---|---|---|---|
| KIT | v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog | Sus scrofa | 8 | NC_010450.4 (41402334..41492306) | KIT | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1248 | Bama Xiang Zhu, China (Pig) | Hypopigmentation (piebald) and deafness | KIT | missense | Naturally occurring variant | Sscrofa11.1 | 8 | g.41485957T>A | c.2418T>A | p.(D806E) | ENU mutagenesis was used to create these pigs, NM_001044525.1; c.2418T>A; NP_001037990.1; p.(D806E) (Xu et al., 2020) | 2020 | 33042408 |
Cite this entry
Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2020). OMIA:002287-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset]. https://omia.org/. https://doi.org/10.25910/2AMR-PV70
Reference
| 2020 | Xu, C., Ren, W., Zhang, Y., Zheng, F., Zhao, H., Shang, H., Guo, W., Yang, S. : |
| KIT gene mutation causes deafness and hypopigmentation in Bama miniature pigs. Am J Transl Res 12:5095-5107, 2020. Pubmed reference: 33042408. |
Edit History
- Created by Frank Nicholas on 21 Oct 2020
- Changed by Frank Nicholas on 21 Oct 2020