OMIA 002287-9823 : Hypopigmentation and deafness in Sus scrofa

Possibly relevant human trait(s) and/or gene(s) (MIM number): 172800

Mendelian trait/disorder: yes

Considered a defect: 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 miniature.

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.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Bama miniature Hypopigmentation (piebald) and deafness KIT missense 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

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