OMIA:002453-9823 : Waardenburg syndrome, SOX10-related in Sus scrofa (pig)

Categories: Pigmentation phene

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 602229 (gene) , 611584 (trait) , 613266 (trait) , 609136 (trait)

Links to MONDO diseases: No links.

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2016

Species-specific description: This phene includes references to studies involving genetically modified organisms (GMO). Lin et al. (2020): "...a missense mutation of SOX10 (c.325A>T) was created in Chinese Bama miniature pigs with N-ethyl-N-nitrosourea (ENU)-induced mutagenesis (Hai et al., 2017; Hao et al., 2018). ... Recently, a single-nucleotide duplication mutation was unexpectedly generated in SOX10 (c.321dupC) by the clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Cas9) system-mediated homology recombination (Zhou et al., 2016), which induced a truncation mutation in SOX10 (p. K108QfsX45). Thus, in this study [Lin et al. 2020], the genotype and phenotype of these two SOX10 mutant pigs are compared to explore the correlation between hearing loss and SOX10 mutations."

Genetic engineering: Yes - variants have been created artificially, e.g. by genetic engineering or gene editing
Have human generated variants been created, e.g. through genetic engineering and gene editing

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SOX10 SRY (sex determining region Y)-box 10 Sus scrofa 5 NC_010447.5 (9890439..9901746) SOX10 Homologene, Ensembl , NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

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
1367 Waardenburg syndrome SOX10 duplication Genome-editing (CRISPR-Cas9) 5 c.321dupC p.(K108Qfs*45) 2016 26442986
1366 Bama Xiang Zhu, China (Pig) Waardenburg syndrome SOX10 missense Chemical mutagenesis (ENU) 5 c.325A>T p.(R109W) 2017 28639938

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2023). OMIA:002453-9823: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2022 Qi, J.C., Jiang, Q.Q., Ma, L., Yuan, S.L., Sun, W., Yu, L.S., Guo, W.W., Yang, S.M. :
Sox10 gene is required for the survival of saccular and utricular hair cells in a porcine model. Mol Neurobiol 59:3323-3335, 2022. Pubmed reference: 35249166. DOI: 10.1007/s12035-021-02691-5.
2020 Lin, T., Luo, L., Guo, W., Ren, W., Liu, C., Wei, H., Yang, S., Wang, Y. :
Phenotypic similarities in pigs with SOX10c.321dupC and SOX10c.325A>T mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome. J Genet Genomics 47:770-780, 2020. Pubmed reference: 33766494. DOI: 10.1016/j.jgg.2020.12.003.
2018 Hao, Q.Q., Li, L., Chen, W., Jiang, Q.Q., Ji, F., Sun, W., Wei, H., Guo, W.W., Yang, S.M. :
Key genes and pathways associated with inner ear malformation in SOX10 p.R109W mutation pigs. Front Mol Neurosci 11:181, 2018. Pubmed reference: 29922125. DOI: 10.3389/fnmol.2018.00181.
2017 Hai, T., Cao, C., Shang, H., Guo, W., Mu, Y., Yang, S., Zhang, Y., Zheng, Q., Zhang, T., Wang, X., Liu, Y., Kong, Q., Li, K., Wang, D., Qi, M., Hong, Q., Zhang, R., Wang, X., Jia, Q., Wang, X., Qin, G., Li, Y., Luo, A., Jin, W., Yao, J., Huang, J., Zhang, H., Li, M., Xie, X., Zheng, X., Guo, K., Wang, Q., Zhang, S., Li, L., Xie, F., Zhang, Y., Weng, X., Yin, Z., Hu, K., Cong, Y., Zheng, P., Zou, H., Xin, L., Xia, J., Ruan, J., Li, H., Zhao, W., Yuan, J., Liu, Z., Gu, W., Li, M., Wang, Y., Wang, H., Yang, S., Liu, Z., Wei, H., Zhao, J., Zhou, Q., Meng, A. :
Pilot study of large-scale production of mutant pigs by ENU mutagenesis. Elife 6:e26248, 2017. Pubmed reference: 28639938. DOI: 10.7554/eLife.26248.
2016 Zhou, X., Wang, L., Du, Y., Xie, F., Li, L., Liu, Y., Liu, C., Wang, S., Zhang, S., Huang, X., Wang, Y., Wei, H. :
Efficient generation of gene-modified pigs harboring precise orthologous human mutation via CRISPR/Cas9-induced homology-directed repair in zygotes. Hum Mutat 37:110-8, 2016. Pubmed reference: 26442986. DOI: 10.1002/humu.22913.

Edit History

  • Created by Imke Tammen2 on 19 Oct 2021
  • Changed by Imke Tammen2 on 19 Oct 2021
  • Changed by Imke Tammen2 on 10 Dec 2023