OMIA 000487-9796 : Hydrocephalus in Equus caballus

In other species: domestic cat , cattle , dog , pig , rabbit , sheep , golden hamster , llama , yellow-crowned parrot

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 109400 , 112240 , 123155 , 209970 , 236600 , 236635 , 236640 , 236660 , 236670 , 236690 , 273730 , 276950 , 307000 , 307010 , 314390 , 123155 , 600257 , 600559 , 600991 , 615181

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Cross-species summary: Enlargement of the cranium caused by accumulation of fluid.

Molecular basis: Ducro et al. (2015) in Friesian horses: "nonsense mutation XM_001491545 c.1423C>T corresponding to XP_001491595 p.Gln475* in B3GALNT2 (1:75,859,296-75,909,376)"

Breed: Friesian.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
B3GALNT2 beta-1,3-N-acetylgalactosaminyltransferase 2 Equus caballus 1 NC_009144.3 (76839622..76890593) B3GALNT2 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
Friesian Hydrocephalus B3GALNT2 nonsense (stop-gain) EquCab2 1 g.75907505C>T c.1423C>T p.Q475* 2015 26452345 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

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.
2017 Ayala-Valdovinos, M.A., Galindo-García, J., Sánchez-Chiprés, D., Duifhuis-Rivera, T. :
Genotyping of friesian horses to detect a hydrocephalus-associated c.1423C>T mutation in B3GALNT2 using PCR-RFLP and PCR-PIRA methods: Frequency in stallion horses in México. Mol Cell Probes 32:69-71, 2017. Pubmed reference: 28011345. DOI: 10.1016/j.mcp.2016.12.005.
2015 Ducro, B.J., Schurink, A., Bastiaansen, J.W., Boegheim, I.J., van Steenbeek, F.G., Vos-Loohuis, M., Nijman, I.J., Monroe, G.R., Hellinga, I., Dibbits, B.W., Back, W., Leegwater, P.A. :
A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses. BMC Genomics 16:761, 2015. Pubmed reference: 26452345. DOI: 10.1186/s12864-015-1936-z.
2013 Sipma, K.D., Cornillie, P., Saulez, M.N., Stout, T.A., Voorhout, G., Back, W. :
Phenotypic Characteristics of Hydrocephalus in Stillborn Friesian Foals. Vet Pathol :, 2013. Pubmed reference: 23676552. DOI: 10.1177/0300985813488955.
2011 Oey, L., Müller, J.M., von Klopmann, T., Jacobsen, B., Beineke, A., Feige, K. :
Diagnosis of internal and external hydrocephalus in a warmblood foal using magnetic resonance imaging. Tierarztl Prax Ausg G Grosstiere Nutztiere 39:41-5, 2011. Pubmed reference: 22138744.
2002 Jaworski, Z., Kasperowicz, B., Wroblewski, Z. :
A case of hydrocephalus in a Polish Primitive Horse Medycyna Weterynaryjna 58:230-231, 2002.
1996 Rivas, L.J., Hinchcliff, K.W., Robertson, J.T. :
Cervical meningomyelocele associated with spina bifida in a hydrocephalic miniature colt Journal of the American Veterinary Medical Association 209:950 ff., 1996.
1993 Johnson, P.J., Lin, T.L., Jennings, D.P. :
Diffuse Cerebral Encephalopathy Associated with Hydrocephalus and Cholesterinic Granulomas in a Horse Journal of the American Veterinary Medical Association 203:694-697, 1993. Pubmed reference: 8407539.
1992 Ojala, M., Ala-Huikku, J. :
Inheritance of hydrocephalus in horses. Equine Vet J 24:140-3, 1992. Pubmed reference: 1582393.
1980 Bowman, R.W. :
Congenital hydrocephalus in 2 foals. Mod Vet Pract 61:862-4, 1980. Pubmed reference: 7421786.
1979 Carbery, J.T. :
A case of equine hydrocephalus. N Z Vet J 27:158, 1979. Pubmed reference: 291822. DOI: 10.1080/00480169.1979.34633.
1976 Bester, R.C., Cimprich, R.E., Evans, L.H. :
Hydrocephalus in an 18-month-old colt. J Am Vet Med Assoc 168:1041-2, 1976. Pubmed reference: 931772.
1950 Petiot, M.P. :
[Hydrocephalus of the colt]. Rec Med Vet Ec Alfort 126:467-70, 1950. Pubmed reference: 14781419.

Edit History


  • Created by Frank Nicholas on 06 Sep 2005
  • Changed by Frank Nicholas on 14 Dec 2011
  • Changed by Frank Nicholas on 30 Dec 2015