OMIA 002210-9823 : Hypothyroidism, congenital, DUOX2-related in Sus scrofa

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 607200 (trait) , 606759 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2019

History: This single-locus disorder is one of 10 created by the use of ENU mutagenesis, i.e. mutagenesis of sperm via injection of N-ethyl-N-nitrosourea into young boars, as reported by Hai et al. (2017).

Mapping: Cao et al. (2019) mapped this disorder to a region on "chromosome 1 (118-160 Mb) . . . which included 374 annotated genes."

Molecular basis: Whole-exome sequencing of two homozygous-mutant pigs, followed by filtering and segregation analysis, enabled Cao et al. (2019) to identify the likely causal variant as "(c.1226 A>G) that resulted in a highly conserved amino acid substitution (D409G) . . . in the DUOX2 gene. This mutation, located within an exonic splicing enhancer motif, caused aberrant splicing of DUOX2 transcripts and resulted in lower H2O2 production, which might cause a severe defect in thyroid hormone production."

Clinical features: Cao et al. (2019) reported that affected pigs had "congenital nude skin and thyroid deficiency".

Breed: Bama miniature.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DUOX2 dual oxidase 2 Sus scrofa 1 NC_010443.5 (126620468..126641406) DUOX2 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.

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 Congenital hypothyroidosis DUOX2 missense Sscrofa11.1 1 g.126625620A>G c.1226A>G p.(D409G) ENU mutagenesis was used to create these pigs, the mutation is located within an exonic splicing enhancer motif and causes aberrant splicing of DUOX2 transcripts (Cao et al., 2019) 2019 30651277


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.
2019 Cao, C., Zhang, Y., Jia, Q., Wang, X., Zheng, Q., Zhang, H., Song, R., Li, Y., Luo, A., Hong, Q., Qin, G., Yao, J., Zhang, N., Wang, Y., Wang, H., Zhou, Q., Zhao, J. :
An exonic splicing enhancer mutation in <i>DUOX2</i> causes aberrant alternative splicing and severe congenital hypothyroidism in Bama pigs. Dis Model Mech 12:, 2019. Pubmed reference: 30651277. DOI: 10.1242/dmm.036616.
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:, 2017. Pubmed reference: 28639938. DOI: 10.7554/eLife.26248.

Edit History

  • Created by Frank Nicholas on 20 Sep 2019
  • Changed by Frank Nicholas on 20 Sep 2019
  • Changed by Frank Nicholas on 21 Sep 2019
  • Changed by Imke Tammen2 on 23 Feb 2021