OMIA:002450-9913 : Ichthyosis, FA2H-related in Bos taurus (taurine cattle)
Categories: Integument (skin) phene
Possibly relevant human trait(s) and/or gene(s) (MIM number): 611026 (gene)
Links to MONDO diseases: No links.
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2021
Species-specific name: Ichthyosis congenita (IC)
Inheritance: Jacinto et al. (2021): "pedigree records indicated a monogenic recessive trait."
Molecular basis: Jacinto et al. (2021): "Homozygosity mapping and whole-genome sequencing allowed the identification of a homozygous frameshift 1 bp insertion in the FA2H gene (c.9dupC; p.Ala4ArgfsTer142) located in a 1.92 Mb shared identical-by-descent region on chromosome 18 present in all cases, while the parents were heterozygous as expected for obligate carriers."
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: Jacinto et al. (2021): "Nine affected cattle presenting congenital xerosis, hyperkeratosis and scaling of the skin as well as urolithiasis and cystitis associated with retarded growth were examined. ... A sporadic incidence of mild clinical signs in the skin of heterozygous carriers was observed."
Pathology: Jacinto et al. (2021): "Skin histopathology revealed a severe, diffuse orthokeratotic hyperkeratosis with mild to moderate epidermal hyperplasia."
Prevalence: Jacinto et al. (2021) report an estimated allele frequency of ~ 7.5% in Chianina top sires.
Chianina (Cattle) (VBO_0000178).
Breeds in which the phene has been documented. For breeds in which a likely causal variant has been documented, see the variant table below
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|FA2H||fatty acid 2-hydroxylase||Bos taurus||18||NC_037345.1 (2205685..2151171)||FA2H||Homologene, Ensembl , NCBI gene|
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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|
|1360||Chianina (Cattle)||Ichthyosis congenita||FA2H||insertion, small (<=20)||Naturally occurring variant||ARS-UCD1.2||18||g.2205625_2205626insG||c.9dupC||p.(A4Rfs*142)||NM_001192455.1; NP_001179384.1||2021||34599683|
Cite this entry
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||Jacinto, J.G.P., Sbarra, F., Quaglia, A., Gentile, A., Drögemüller, C. :|
|Short communication: Prevalence of deleterious variants causing recessive disorders in Italian Chianina, Marchigiana and Romagnola cattle. Animal 16:100569, 2022. Pubmed reference: 35717834. DOI: 10.1016/j.animal.2022.100569.|
|2021||Jacinto, J.G.P., Häfliger, I.M., Veiga, I.M.B., Letko, A., Gentile, A., Drögemüller, C. :|
|A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle. Mol Genet Genomics 296:1313-1322, 2021. Pubmed reference: 34599683. DOI: 10.1007/s00438-021-01824-8.|
|2006||Testoni, S., Zappulli, V., Gentile, A. :|
|Ichthyosis in two Chianina calves. Dtsch Tierarztl Wochenschr 113:351-4, 2006. Pubmed reference: 17009813.|
- Created by Imke Tammen2 on 07 Oct 2021
- Changed by Imke Tammen2 on 07 Oct 2021