OMIA 001978-9913 : Arthrogryposis, distal, type 1B in Bos taurus

Possibly relevant human trait(s) and/or gene(s) (MIM number): 614335

Mendelian trait/disorder: yes

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 2015

Species-specific description: Illustrating the enormous power of genomic tools, Wiedemar et al. (2015) were able to identify a likely causal mutation for a previously unrecorded disease phenotype in just a single calf.

Molecular basis: Wiedemar et al. (2015) reported a likely causal mutation: "a SNP replacing a thymine by a guanine on bovine chromosome 5 at bp-position 65,787,153. It was clearly identified as a de novo mutation as it was absent in both parents, but present in the calf . . . . Interestingly, this SNP situated in exon 13 of the myosin binding protein C slow type (MYBPC1) gene at position 885 of the open reading frame (c.885T>G) is predicted to lead to an amino acid exchange from leucine to arginine of the encoded MYBPC1 protein sequence at position 295 (p.Leu295Arg)".

Clinical features: The single known case was described by Wiedemar et al. (2015) as "A 2-week-old female calf was referred to the Clinic for Ruminants at the Vetsuisse Faculty, University of Berne, Switzerland, with difficulty standing and muscle tremors since birth. Prior treatment by the private veterinarian with selenium, calcium, magnesium, and vitamins had not led to any improvement. The general status at arrival to the clinic was slightly reduced, though the calf was alert and attentive, and tachycardia (152/min) and tachypnea (80/min) were noticeable. Examination of the skin revealed an infected lesion on the fetlock of the left forelimb and several superficial lesions. Gastrointestinal, respiratory, and urinary tracts were without important abnormalities. The musculoskeletal system was normally developed, no atrophy was noticed, but the calf remained in a recumbent position unless lifted up and helped to stand. When standing, it showed tremor, ataxia, and could only move backward with hypermetria in the hind limbs and tip-toe-standing of the front limbs (Fig 1). Consciousness was normal but the calf was unable to orientate itself in its surroundings. Cranial nerve examination showed no deficits. Muscle tone was generally increased in the limbs. No painful reaction was noticed upon palpation of the limbs. The spinal reflexes were generally reduced. Sensibility was normal in the neck and shoulder area, but reduced in the limbs. The head and neck could be moved in all directions and the ears were symmetrical and loose. The clinical signs were localized in the peripheral nervous or musculoskeletal system".

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
MYBPC1 myosin binding protein C, slow type Bos taurus 5 NC_037332.1 (65398196..65500285) MYBPC1 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.

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
Swiss Holstein Arthrogryposis, distal, type 1B MYBPC1 missense UMD3.1 5 g.65787153T>G c.884T>G p.L295R 2015 26289121 Variant coordinates obtained from or confirmed by EBI's Some Effect Predictor (VEP) tool

Reference


2015 Wiedemar, N., Riedi, A.K., Jagannathan, V., Drögemüller, C., Meylan, M. :
Genetic Abnormalities in a Calf with Congenital Increased Muscular Tonus. J Vet Intern Med 29:1418-21, 2015. Pubmed reference: 26289121. DOI: 10.1111/jvim.13599.

Edit History


  • Created by Frank Nicholas on 31 Dec 2015
  • Changed by Frank Nicholas on 31 Dec 2015