OMIA:001888-9685 : Muscular dystrophy, Becker type in Felis catus (domestic cat)
Categories: Muscle phene
Links to MONDO diseases:
Mendelian trait/disorder: yes
Mode of inheritance: X-linked recessive
Considered a defect: yes
Key variant known: yes
Year key variant first reported: 2023
Cross-species summary: Variants in the DMD gene may give rise to phenotypes with different severity. True null alleles cause the more severe Duchenne muscular dystrophy (OMIA:001081), while alleles with partial remaining protein function give rise to the milder Becker muscular dystrophy.
Molecular basis: Hilton et al. (2023) studied a small family of Maine Coon crossbred cats, in which two male siblings had a mild form of muscular dytrophy. By comparing whole genome sequencing data from an affected cat to the genomes of 74 control cats, the authors identified a private missense variant in the functional candidate gene DMD as most likely causative variant. "... This DMD missense variant in exon 30 constitutes a G>A exchange at position 27,988,938 on the short arm of the X-chromosome, XM_045050787.1:c.4186C>T. This variant is predicted to result in a histidine-to-tyrosine substitution in the DMD protein, XP_044906722.1:p.(His1396Tyr). The predicted amino acid substitution lies within the spectrin 10 domain of the protein, which is conserved among mammals ..." Two male affected cats carried the mutant allele in hemizygous state and the authors demonstrated the expected co-segregation of the mutant allele in a small family. The mutant allele was absent from "277 control Maine Coon cats and 320 additional control cats of diverse other breeds." Immunohistochemistry of skeletal muscle biopsies demonstrated irregular and partially deficient expression of dystrophin together with diminished antibody reactivity of β- and γ-sarcoglycan. The immunohistochemistry was thus consistent with a partial loss of dystrophin function (Hilton et al. 2023).
Have human generated variants been created, e.g. through genetic engineering and gene editing
Clinical features: "A 2.5-year-old castrated male domestic cat (index case, cat #1) and its male litter-mate (cat #2) were presented to the Tierärztliche Klinik für Kleintiere, Neu-Anspach, Germany, because of clumsy gait, difficulty jumping and grooming, and protrusion of the tongue tip. These cats lived in- and outdoors in a suburban neighbor-hood without any major physical impediments according to their owners. ... Physical examinations of the two affected male littermates revealed a normal body condition score but marked generalized muscular hypertrophy, particularly of the neck and upper limbs, as well as macroglossia and a more forceful breathing pattern. There was no muscle cramping and dimpling, making a congenital myopathy unlikely. Imaging of both the body cavities and heart of cat #1 and cat #2 did not reveal any abnormalities besides the systemic skeletal muscular hypertrophy. There were no cardiac murmurs auscultated, pulse rate and quality appeared normal, and echocardiogram parameters were in normal reference intervals, thus providing no clinical evidence of a cardiomyopathy. Furthermore, there was neither clinical nor radiographic evidence of megaesophagus in either of the affected cats." (Hilton et al. 2023). Serum creatine kinase (CK) activities of the affected cats were massively elevated. Aspartate aminotransferase (AST), and alanine aminotransferase (ALT) were moderately elevated in the affected cats (Hilton et al. 2023).
Pathology: "... Transverse and longitudinal sections of gastrocnemius muscle obtained from cat #1 showed structural changes consistent with a dystrophic myopathy: Bimodal pathological fiber size variations, comprising multiple enlarged and atrophic myocytes, as well as muscle fiber necrosis, were present. Furthermore, chronic diffuse myofibrosis, nuclear internalization, and interstitial lymphocytic infiltration were seen. No ragged-red myofibers, cones, rods, cores, and targets were seen, but there were myocytes with increased fibrils and clumping of the myotubular apparatus. Very mild hypomyelination was noted in endomysial nerve fibers. Enzyme histochemistry and myosin heavy chain immunohistochemistry revealed normal type 1 and 2 fiber distribution. Mild increases in subsarcolemmal and interfibrillar lipid droplets were found in a few muscle fibers. Positive acid phosphatase activity highlighted necrotizing myofibers. Together, these histopathological features were consistent with a dystrophic myopathy ..." (Hilton et al. 2023)
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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.
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|OMIA Variant ID
|Type of Variant
|Source of Genetic Variant
|g. or m.
|c. or n.
|Inferred EVA rsID
|Becker muscular dystrophy
|Naturally occurring variant
Cite this entry
|Hilton, S., Christen, M., Bilzer, T., Jagannathan, V., Leeb, T., Giger, U. :
|Dystrophin (DMD) missense variant in cats with Becker-type muscular dystrophy. Int J Mol Sci 24:3192, 2023. Pubmed reference: 36834603. DOI: 10.3390/ijms24043192.
- Created by Tosso Leeb on 21 Feb 2023
- Changed by Tosso Leeb on 21 Feb 2023
- Changed by Imke Tammen2 on 27 Feb 2023