OMIA 002450-9913 : Ichthyosis, FA2H-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 611026 (gene)

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."

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.

Breed: Chianina.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FA2H fatty acid 2-hydroxylase Bos taurus 18 NC_037345.1 (2205766..2151163) FA2H Homologene, Ensembl, NCBI gene

Variants

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
1360 Chianina 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

References


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.
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.

Edit History


  • Created by Imke Tammen2 on 07 Oct 2021
  • Changed by Imke Tammen2 on 07 Oct 2021