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