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OMIA 001949-9685 : Hypotrichosis, with short life expectancy in Felis catus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 601705 (trait) , 600838 (gene)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Molecular basis: c.1030_1033delCTGT deletion in FOXN1 (Abitbol et al., 2015)

Breed: Birman.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
FOXN1 forkhead box N1 Felis catus E1 NC_058381.1 (18255680..18227070) FOXN1 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
1319 Birman Hypotrichosis, with short life expectancy FOXN1 deletion, small (<=20) Naturally occurring variant Felis_catus_9.0 E1 g.18255880_18255883del c.1030_1033del p.L344Gfs XM_019817475.2; XP_019673034.1; published as c.1030_1033delCTGT; predicted to cause a frameshift leading to a premature stop codon at position 547 2015 25781316 Genomic position in Felis_catus_9.0 provided by Leslie Lyons and Reuben Buckley.
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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.
2015 Abitbol, M., Bossé, P., Thomas, A., Tiret, L. :
A deletion in FOXN1 is associated with a syndrome characterized by congenital hypotrichosis and short life expectancy in Birman cats. PLoS One 10:e0120668, 2015. Pubmed reference: 25781316. DOI: 10.1371/journal.pone.0120668.
1994 Casal, M.L., Straumann, U., Sigg, C., Arnold, S., Rüsch, P. :
Congenital hypotrichosis with thymic aplasia in nine Birman kittens. Journal of the American Animal Hospital Association 30:600-602, 1994.
1988 Bourdeau, P., Leonetti, D., Maroille, J-M., Mialot, M. :
Generalized hereditary alopecia of the cat: about a case observed in a Sacred Burmese Cat. Rec Med Vet 164:17-24, 1988.
1984 Hendy-Ibbs, PM. :
Hairless cats in Great Britain. J Hered 75:506-7, 1984. Pubmed reference: 6512243.

Edit History


  • Created by Frank Nicholas on 24 Mar 2015
  • Changed by Frank Nicholas on 24 Mar 2015