OMIA 000837-9823 : Vitamin D-deficiency rickets, type I in Sus scrofa

In other species: dog , domestic cat

Possibly relevant human trait(s) and/or gene(s) (MIM number): 264700

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2003

Cross-species summary: Vitamin D (cholecalciferol) is synthesised in the skin from 7-dehydrocholesterol by the action of UV radiation from sunlight. Cholecalciferol, however, has very little biological activity: it requires two hydroxylations in order to become (biologically) active. The first hydroxylation, catalysed by cholecalciferol 25-hydroxylase, occurs in the liver. The second of these hydroxylations occurs in the kidney under the action of the enzyme 25-alpha-hydroxycholecalciferol 1-hydroxylase. The resultant active form of vitamin D (called 1,25-dihydroxycholecalciferol or 1,25(OH)sub2D) is a steroid hormone that plays a vital role in whole-body calcium homeostasis. Vitamin D-deficieny rickets, type I (previously known as Pseudo-vitamin D deficiency rickets) is an inherited deficiency of the 1-hydroxylase enzyme, due to mutations in the gene that encodes this enzyme, namely CYP27B1. As expected, this deficiency results in clinical signs indistinguishable from those seen in individuals suffering from non-genetic lack of vitamin D, most commonly resulting from a dietary deficiency of calcium or insufficient exposure to sunlight. The clinical signs of rickets (inherited and non-genetic) arise from defects in calcium homeostasis. The most noticeable effects include a failure of calcification of bones (leading to bowing of limbs) and delayed dentition.

Species-specific name: PDDR

Molecular basis: The molecular basis of this disorder in pigs was determined via a candidate gene strategy by Chavez et al. (2003), who showed that in Hannover pigs, the clinical signs result from either of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1). [FN 16 Oct 2003; 21 Sep 2012]

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
CYP27B1 25-hydroxyvitamin D3 1alpha-hydroxylase Sus scrofa 5 NC_010447.5 (23058865..23053129) CYP27B1 Homologene, Ensembl, NCBI gene

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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
Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) the first of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218
Vitamin D-deficiency rickets, type I CYP27B1 deletion, gross (>20) the second of two deletions (173 bp or 329 bp) in the gene for cytochromome P450C1 (otherwise known as CYP27B1) 2003 12915218

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.
2012 Madson, D.M., Ensley, S.M., Gauger, P.C., Schwartz, K.J., Stevenson, G.W., Cooper, V.L., Janke, B.H., Burrough, E.R., Goff, J.P., Horst, R.L. :
Rickets: case series and diagnostic review of hypovitaminosis D in swine. J Vet Diagn Invest :, 2012. Pubmed reference: 22991390. DOI: 10.1177/1040638712461487.
2003 Chavez, L.S., Serda, R., Choe, S., Davidi, L., Harmeyer, J., Omdahl, J.L. :
Molecular basis for pseudo vitamin D-deficiency rickets in the Hannover pig Journal of Nutritional Biochemistry 14:378-85, 2003. Pubmed reference: 12915218.
1998 Axen, E., Harmeyer, J., Wikvall, K. :
Renal and hepatic 1-alpha-hydroxylation of 25-hydroxyvitamin D-3 in piglets suffering from pseudo vitamin D-deficiency rickets, type I Biochimica et Biophysica Acta - Molecular Basis of Disease 1407:234-242, 1998.
1994 Barckhaus, R.H., Collery, P., Harmeyer, J., Poirier, L.A., Kaune, R., Littlefield, N.A., Gossrau, R., Etienne, J.C., Hohling, H.J. :
Quantitative X-Ray Microprobe Analysis of the Epiphyseal Growth Plate and Histochemistry of Various Intestinal Enzymes in Piglets Suffering from Vitamin D-Deficiency Rickets, Type-I Metal Ions in Biology and Medicine, Vol 3 3:59-64, 1994.
1992 Limeback, H., Schlumbohm, C., Sen, A., Nikiforuk, G. :
The Effects of Hypocalcemia/Hypophosphatemia on Porcine Bone and Dental Hard Tissues in an Inherited Form of Type-1 Pseudo- Vitamin-D Deficiency Rickets Journal of Dental Research 71:346-352, 1992. Pubmed reference: 1556293.
1986 Limbach, B. :
[Expression of phenotypic characteristics in heterozygote piglets with pseudo-vitamin D-deficiency rickets, type 1] Inaugural-Dissertation, Tierarztliche Hochschule, Hannover, German Ferderal Republic :90 pp., 1986.
Winkler, I., Schreiner, F., Harmeyer, J. :
Absence of renal 25-hydroxycholecalciferol 1-hydroxylase activity in a pig strain with pseudo vitamin D-dependent rickets Calcified Tissue Research 38:87-94, 1986.
1985 Fox, J., Mauder, E.M.W., Randall, V.A., Care, A.D. :
Vitamin D-dependent rickets type I in pigs Clinical Science 69:541-548, 1985. Pubmed reference: 2996825.
Harmeyer, J., Kaune, R. :
[A defect of cholecalciferol metabolism as the basis of hereditary rickets in pigs] :207-217, 1985.
1982 Harmayer, J. :
Inherited disturbance of vitamin D metabolism in pig :64-75, 1982.
1969 Plonait, H. :
Inherited rickets in the piglet: pathogenesis and treatment Zentralblatt fur Veterinarmedizin 16A:271-288, 1969.
1968 Meyer, H., Plonait, H. :
An inherited disorder of calcium metabolism in the pig (hereditary rickets) Zentralblatt fur Veterinarmedizin, Reihe A 15:481-493, 1968.

Edit History


  • Created by Frank Nicholas on 01 Dec 2009
  • Changed by Frank Nicholas on 08 Oct 2011
  • Changed by Frank Nicholas on 09 Dec 2011
  • Changed by Frank Nicholas on 21 Sep 2012