OMIA 000593-9913 : Acrodermatitis enteropathica in Bos taurus

In other species: dog

Possibly relevant human trait(s) and/or gene(s) (MIM number): 201100

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2002

Species-specific name: Lethal trait A46; Bovine hereditary zinc deficiency

Species-specific symbol: BHZD

Molecular basis: In a conference abstract, Tammen et al. (2002) reported an undisclosed causative mutation in the comparative candidate gene SLC39A4. Yuzbasiyan-Gurkan and Bartlett (2006) reported the molecular basis of this disorder to be a splice-site variant within the SLC39A4 gene. "The mutation leads to exon skipping, leaving the coding region in frame. The gene product is predicted to lack two critical motifs, which lie in adjacent transmembrane domains implicated in the formation of a pore responsible for the transport of zinc. While further functional studies are warranted, this unique variant is likely to be responsible for the impaired zinc absorption in this disease."

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
SLC39A4 solute carrier family 39 (zinc transporter), member 4 Bos taurus 14 NC_037341.1 (533918..538406) SLC39A4 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.

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
Holstein Acrodermatitis enteropathica SLC39A4 splicing UMD3.1 14 g.1723330 c.1645+1G>A "a single nucleotide mutation of the splice donor site in intron 10" 2006 16714095 Variant information kindly provided or confirmed by Hubert Pausch, including information from Additional Table 6 of Jansen et al. (2013) BMC Genomics201314:446 https://doi.org/10.1186/1471-2164-14-446

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.
2006 Yuzbasiyan-Gurkan, V., Bartlett, E. :
Identification of a unique splice site variant in SLC39A4 in bovine hereditary zinc deficiency, lethal trait A46: An animal model of acrodermatitis enteropathica. Genomics 88:521-6, 2006. Pubmed reference: 16714095. DOI: 10.1016/j.ygeno.2006.03.018.
2002 Tammen, I., Cook, R.W., Gitschier, J., Nicholas, F.W., Raadsma, H.W. :
Mapping and identification of the gene causing hereditary zinc deficiency in Angus cattle. Proceedings of the 28th International Conference on Animal Genetics in Göttingen, Germany Abstract C059:70, 2002.
1999 Tammen, I., Cavanagh, J.A.L., Cook, R.W., Harper, P.A.W., Raadsma, H.W., Nicholas, F.W. :
Combined homozygosity mapping and candidate gene approach for the identification of disease genes in cattle and sheep Archiv fur Tierzucht-Archives of Animal Breeding 42:163-166, 1999.
1996 Machen, M., Montgomery, T., Holland, R., Braselton, E., Dunstan, R., Brewer, G., Yuzbasiyangurkan, V. :
Bovine hereditary zinc deficiency - lethal trait A46 Journal of Veterinary Diagnostic Investigation 8:219-227, 1996. Pubmed reference: 8744744.
1993 Agerholm, J.S., Basse, A., Christensen, K. :
Investigations on the occurrence of hereditary diseases in the Danish cattle population 1989-1991 Acta Veterinaria Scandinavica 34:245-253, 1993. Pubmed reference: 8310897.
Cook, R.W., Gill, P.A. :
Heritable zinc deficiency in Angus cattle Proceedings of the Annual Conference of the Australian Society of Veterinary Pathology :90 only, 1993.
Scott, D., Tizard, I. :
Primary Immunodeficiencies of Food Animals Veterinary Clinics of North America - Food Animal Practice 9:65-75, 1993. Pubmed reference: 8457931.
1992 Bauer, R., Brummerstedt, E., Jensen, M., Mejborn, H., Smith, M. :
Reduced Rate of Uptake of Zinc Ions in a Calf Affected with the Lethal Syndrome A46 Relative to Clinically Normal Calves Using Whole Body Radio-Isotope Scanning of Zn-62 APMIS 100:347-352, 1992. Pubmed reference: 1581043.
1989 Perryman, L.E., Leach, D.R., Davis, W.C., Mickelsen, W.D., Heller, S.R., Ochs, H.D., Ellis, J.A., Brummerstedt, E. :
Lymphocyte Alterations in Zinc-Deficient Calves with Lethal Trait A46 Veterinary Immunology and Immunopathology 21:239-248, 1989. Pubmed reference: 2800326.
1987 Abid, H., Kwon, M-S., Stober, M., Letesson, J-J., Davis, W.C., Leibold, W. :
Immune reactions in calves with hereditary zinc malabsorption Proceedings of the Eighth European Immunology Meeting, Zagreb, Yugoslavia :30, 1987.
1986 O'Brien, J.K. :
Inherited parakeratosis in two Friesian calves Veterinary Record 119:205-206, 1986.
1984 Lamand, M. :
Zinc deficiency in ruminants Irish Veterinary Journal 38:40-47, 1984.
McErlean, B.A. :
Inherited malabsorption of zinc in a Friesian calf (lethal trait A46) Irish Veterinary Journal 38:48-53, 1984.
1983 Reich, H. :
[Acrodermatitis enteropathica--hereditary parakeratosis in calves: contribution to comparative dermatology]. Z Hautkr 58:1410-5, 1983. Pubmed reference: 6649744.
Savey, M. :
Identification on France de la parakeratose hereditaire bovine Bulletin d'Academie Veterinaire de France 56:289-298, 1983.
1982 Herzog, A., Hohn, H., Kopp, U. :
Chromosomenanalyse bei Kalbern mit erblicher Parakeratose Berliner und Munchener Tierartzliche Wochenschrift 95:284-287, 1982.
Price, J., Wood, D.A. :
Zinc responsive parakeratosis and ill-thrift in a Friesian calf Veterinary Record 110:478 only, 1982.
1981 Flagstad, T. :
Zinc absorption in cattle with a dietary picolinic acid supplement Journal of Nutrition 111:1996-1999, 1981. Pubmed reference: 7299497.
1980 Lekeux, P. :
Parakeratose de la peau chez un veau Annales de Medicine Veterinaire 124:185-190, 1980.
1979 Bosma, A.A., Kroneman, J. :
Chromosome studies in cattle with hereditary zinc deficiency (lethal trait A 46) Veterinary Quarterly 1:121-125, 1979.
1977 Brummerstedt, E., Basse, A., Flagstad, T., Andresen, E. :
Animal model of human disease: acrodermatitis enteropathica, zinc malabsorption. Animal model: lethal trait A 46 in cattle (hereditary parakeratosis, hereditary thymnic hypoplasia, hereditary zinc deficiency) American Journal of Pathology 87:725-728, 1977. Pubmed reference: 559415.
1976 Perusia, O.R. :
Paraqueratosis en terneros por carencia de cinc Gaceta Veterinaria 58:276-279, 1976.
Schlerka, G., Baumgartner, W. :
Parakeratose bei einem Hohenfleckviehkalb Wiener Tierartzliche Monatsschrift 63:19-22, 1976.
Weismann, K., Flagstad, T. :
Hereditary zinc deficiency (adema disease) in cattle, an animal parallel to acrodermatitis enteropatica Acta Dermato Venerologica 56:151-154, 1976.
1975 Ansay, M. :
Hereditary zinc deficiency (A 46 syndrome) in Dutch Friesian cattle : a deficiency in cellular immunity ? Annales de Medecine Veterinaire 119:479-481, 1975.
Basse, A. :
Post-mortem findings in calves with the lethal trait A46, in Black Pied Danish cattle of Friesian descent Proceedings of the Eighth International Meeting on Diseases of Cattle. VI Congresso della Societa' Italiana di Buiatria, Milan, 1974 :147-149, 1975.
Moynahan, E.J. :
Letter: Zinc deficiency and cellular immune deficiency in acrodermatitis enteropathica in man and zinc deficiency with thymic hypoplasia in fresian calves: a possible genetic link. Lancet 2:710, 1975. Pubmed reference: 52085.
1974 Schaaf, A. van der :
A hereditary condition associated with increased zinc requirements in Dutch Friesian calves Tijdschrift voor Diergeneeskunde 99:1017-1020, 1974. Pubmed reference: 4408424.
Signorini, G.C. :
Malattie del piede da carenzo di zinco e patologia da oligoelementi Proceedings of the 8th International Meeting on Diseases of Cattle/6th Congress of the Society Italiano Buiatrica, Mailand :184-188, 1974.
Stober, M., Pittermann, D., Klug, E. :
Hereditary parakeratosis of Black Pied Lowland calves Zentralblatt fur Veterinarmedizin 20:165-171, 1974.
1971 Adrichem, P.W.M. van, Leeuwen, J.M. van, Kluijve, J.J. van :
Parakeratosis of the skin in calves Netherlands Journal of Veterinary Science 4:57-63, 1971.
Larsen, B. :
Investigations on the relationship of blood and polymorphic protein systems to a lethal trait, A46, in cattle Aarsberetning. Institut for Sterilitetsforskning, Copenhagen :183-191, 1971.
Stober, M. :
Paracheratosi cutanea nei vitelli pezzati neri Atti della Societa Italiana de Buiatria 3:236-246, 1971.
Stöber, M. :
[Parakeratosis in black pied calves. 1. Clinical findings and etiology]. Dtsch Tierarztl Wochenschr 78:257-65, 1971. Pubmed reference: 4930216.
1970 Andresen, E., Flagstad, T., Basse, A., Brummerstedt, E. :
Evidence of a lethal trait, A 46, in Black Pied Danish cattle of Friesian descent Nordisk Veterinaermedicin 22:473-485, 1970.
Gronberg-Pedersen, H. :
Morbus Ademae: En ny sygdrom hos SDM-kalve - muligvis med genetisk baggrund Medlemsblad Danske Dyrlaegeforen 53:143-145, 1970.
1964 McPherson, E.A., Beattie, I.S., Young, G.B. :
An inherited defect in Friesian calves Proceedings of the Third International Meeting on Diseases of Cattle, Copenhagen :533-539, 1964.

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