Literature DB >> 30705458

Congenital hydrocephalus in a Belgian draft horse associated with a nonsense mutation in B3GALNT2.

David Scott Kolb1, Claudia Klein1.   

Abstract

Congenital hydrocephalus has been reported for a number of horse breeds, and for Friesian horses this condition has been associated with a nonsense mutation of B3GALNT2. We report the first case of congenital hydrocephalus associated with the said mutation in a Belgian draft horse. Genetic testing and consideration of the testing results in breeding programs are warranted.

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Year:  2019        PMID： 30705458      PMCID： PMC6340252     

Source DB:  PubMed          Journal:  Can Vet J        ISSN： 0008-5286            Impact factor:   1.008


  7 in total

1.  Diagnosis of internal and external hydrocephalus in a warmblood foal using magnetic resonance imaging.

Authors:  L Oey; J-M V Müller; T von Klopmann; B Jacobsen; A Beineke; K Feige
Journal:  Tierarztl Prax Ausg G Grosstiere Nutztiere       Date:  2011-02-22       Impact factor: 0.488

2.  Inheritance of hydrocephalus in horses.

Authors:  M Ojala; J Ala-Huikku
Journal:  Equine Vet J       Date:  1992-03       Impact factor: 2.888

3.  Congenital hydrocephalus in 2 foals.

Authors:  R W Bowman
Journal:  Mod Vet Pract       Date:  1980-10

4.  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.

Authors:  Miguel Angel Ayala-Valdovinos; Jorge Galindo-García; David Sánchez-Chiprés; Theodor Duifhuis-Rivera
Journal:  Mol Cell Probes       Date:  2016-12-21       Impact factor: 2.365

5.  Mutations in B3GALNT2 cause congenital muscular dystrophy and hypoglycosylation of α-dystroglycan.

Authors:  Elizabeth Stevens; Keren J Carss; Sebahattin Cirak; A Reghan Foley; Silvia Torelli; Tobias Willer; Dimira E Tambunan; Shu Yau; Lina Brodd; Caroline A Sewry; Lucy Feng; Goknur Haliloglu; Diclehan Orhan; William B Dobyns; Gregory M Enns; Melanie Manning; Amanda Krause; Mustafa A Salih; Christopher A Walsh; Matthew Hurles; Kevin P Campbell; M Chiara Manzini; Derek Stemple; Yung-Yao Lin; Francesco Muntoni
Journal:  Am J Hum Genet       Date:  2013-02-28       Impact factor: 11.025

6.  Phenotypic characteristics of hydrocephalus in stillborn Friesian foals.

Authors:  K D Sipma; P Cornillie; M N Saulez; T A E Stout; G Voorhout; W Back
Journal:  Vet Pathol       Date:  2013-05-15       Impact factor: 2.221

7.  A nonsense mutation in B3GALNT2 is concordant with hydrocephalus in Friesian horses.

Authors:  Bart J Ducro; Anouk Schurink; John W M Bastiaansen; Iris J M Boegheim; Frank G van Steenbeek; Manon Vos-Loohuis; Isaac J Nijman; Glen R Monroe; Ids Hellinga; Bert W Dibbits; Willem Back; Peter A J Leegwater
Journal:  BMC Genomics       Date:  2015-10-09       Impact factor: 3.969
  7 in total
  1 in total

1.  Prenatal diagnosis of Walker-Warburg syndrome due to compound mutations in the B3GALNT2 gene.

Authors:  Peng Wang; Pengzhen Jin; Linyan Zhu; Min Chen; Yeqing Qian; Wenshan Zeng; Miaomiao Wang; Yuqing Xu; Yanfei Xu; Minyue Dong
Journal:  J Gene Med       Date:  2022-04-06       Impact factor: 4.152
  1 in total

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