OMIA 002298-9913 : Neuropathy with splayed forelimbs, UCHL1-related in Bos taurus

Possibly relevant human trait(s) and/or gene(s)s (MIM numbers): 191342 (gene) , 615491 (trait)

Mendelian trait/disorder: yes

Mode of inheritance: Autosomal Recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2022

Species-specific name: Jersey neuropathy with splayed forelimbs

Species-specific symbol: JNS

Species-specific description: In a press release issued on 20 November 2020, the American Jersey Cattle Association announced that "A new undesirable genetic factor, known as Jersey Neuropathy with Splayed Forelimbs (JNS), has been identified in the Jersey breed."

Inheritance: Al-Khudhair et al. (2022): "Inheritance of an undesirable genetic factor was determined from a study of 16 affected calves reported by Jersey breeders across the United States. All of their pedigrees traced back on both paternal and maternal sides to a common ancestor born in 1995."

Mapping: Al-Khudhair et al. (2022): "Genotypes revealed that JNS is attributable to a specific haplotype on Bos taurus autosome 6."

Molecular basis: Al-Khudhair et al. (2022): "Sequencing of the region of shared homozygosity revealed missense variant rs1116058914 at base 60,158,901 of the ARS-UCD1.2 reference map as the most concordant with the genetic condition and the most likely cause. The single-base G to A substitution is in the coding region of the last exon of UCHL1, which is conserved across species."

Clinical features: Al-Khudhair et al. (2022): "Calves affected with JNS are unable to stand on splayed forelimbs that exhibit significant extensor rigidity and excessive lateral abduction at birth. Affected calves generally are alert at birth but exhibit neurologic symptoms, including spasticity of head and neck and convulsive behavior. Other symptoms reported include dislocated shoulders, congenital craniofacial anomalies, and degenerative myelopathy."

Prevalence: Al-Khudhair et al. (2022): "Currently 8.2% of the genotyped US Jersey population are carriers of the haplotype."

Breed: Jersey.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
UCHL1 ubiquitin C-terminal hydrolase L1 Bos taurus 6 NC_037333.1 (60147511..60159287) UCHL1 Homologene, Ensembl, NCBI gene

Variants

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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.

Since October 2021, OMIA includes a semiautomated lift-over pipeline to facilitate updates of genomic positions to a recent reference genome position. These changes to genomic positions are not always reflected in the ‘acknowledgements’ or ‘verbal description’ fields in this table.

OMIA Variant ID Breed(s) Variant Phenotype Gene Allele Type of Variant Source of Genetic Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Inferred EVA rsID Year Published PubMed ID(s) Acknowledgements
1409 Jersey Neuropathy with splayed forelimbs UCHL1 JNS missense Naturally occurring variant ARS-UCD1.2 6 g.60158901G>A c.979G>A p.(E327K) Several transcripts are reported: ENSBTAT00000046823.2:c.718G>A ENSBTAP00000044075.1:p.Glu240Lys ENSBTAT00000066434.1:c.931G>A ENSBTAP00000063885.1:p.Glu311Lys ENSBTAT00000072800.1:c.979G>A ENSBTAP00000059848.1:p.Glu327Lys ENSBTAT00000074165.1:c.706G>A ENSBTAP00000057432.1:p.Glu236Lys rs1116058914 rs1116058914 2022 34955244

Reference


2022 Al-Khudhair, A., Null, D.J., Cole, J.B., Wolfe, C.W., Steffen, D.J., VanRaden, P.M. :
Inheritance of a mutation causing neuropathy with splayed forelimbs in Jersey cattle. J Dairy Sci 105:1338-1345, 2022. Pubmed reference: 34955244. DOI: 10.3168/jds.2021-20600.

Edit History


  • Created by Frank Nicholas on 26 Nov 2020
  • Changed by Frank Nicholas on 26 Nov 2020
  • Changed by Imke Tammen2 on 11 Jan 2022
  • Changed by Imke Tammen2 on 29 Jan 2022