Test Detail

Pack 2 cavalier King Charles spaniel: muscular dystrophy (MD) + episodic falling (EF) + macrothrombocytopenia (MTC) + degenerative myelopathy (DM exon 2) + dry eye curly coat syndrome (CCS)

General · Dog

Expanded breed panel of the cavalier King Charles spaniel combining five hereditary conditions: X-linked muscular dystrophy due to dystrophin defect (MD, canine model of Duchenne), episodic falling (EF, hypertonic crises), macrothrombocytopenia (MTC, macroplatelets and asymptomatic thrombocytopenia), degenerative myelopathy (DM, SOD1 exon 2 variant) and dry eye curly coat syndrome (CCS, dry eye + curly coat + ichthyosis). The panel allows a joint breeding strategy for several conditions prevalent in the breed.

Inheritance pattern	Mixed: MD recessive X-linked (hemizygous males affected; carrier females usually asymptomatic); EF, MTC, DM (SOD1 exon 2) and CCS autosomal recessive.
Gene / Mutation	DMD — c.7294+5G>T (splice donor site of exon 50, with skipping of exon 50) and a 7-bp deletion in exon 42 (c.6051-6057delTCTCAAT) (MD); BCAN — ~15.7 kb deletion (EF); TUBB1 c.745G>A p.(D249N) (MTC of the cavalier King Charles spaniel); SOD1 c.118G>A p.(E40K) (DM, exon 2 variant); FAM83H c.977del p.(Pro326Hisfs*258) (CCS).
Penetrance	MD: complete penetrance in hemizygous males; carrier females are usually asymptomatic. EF, MTC and CCS: complete or almost complete penetrance in homozygotes and asymptomatic heterozygotes. In DM (SOD1 exon 2) penetrance is incomplete and age-dependent: a proportion of homozygotes do not develop the disease or do so late. The age of onset of MD is variable.
Code	kvrq
Turnaround time	15 days
Price	126,89 €

Incidence

Cavalier King Charles spaniel. MD of the CKCS has a low prevalence and is associated with a founder mutation; there are no consolidated carrier figures in the accessible literature. For EF, CCS and MTC the carrier frequency in the accessible literature is limited. DM exon 2 has a low frequency in the breed (limited data).

Breeder management

- Genotype breeding females for DMD before mating and affected males are not used\n- Genotype breeding dogs for BCAN, TUBB1, SOD1 exon 2 and FAM83H before mating\n- For the recessive ones: do not cross two carriers of the same variant; a carrier may be crossed with a clear animal and the offspring intended for breeding must be tested\n- For X-linked MD: a carrier female produces 50% carrier daughters and 50% affected sons if crossed with a clear male\n- After a confirmed case, do not repeat the parental cross and communicate the status to the buyer

Specialist notes

MTC of the CKCS can distort platelet counts by analyser: confirm with smear and manual count. MD of the CKCS must be distinguished from other congenital myopathies and from sarcoglycanopathies. EF and CCS are clinical+genetic diagnoses: the episodic hypertonic picture and the triad dry eye + curly coat + ichthyosis are suggestive. DM in the CKCS is uncommon and should be considered only after ruling out compressive/structural causes.

References

1. Walmsley GL et al. 2010, mutación hot-spot del gen de la distrofina en cavalier King Charles spaniels deficientes en distrofina. PLoS One. PMID: 20072625
2. Forman OP et al. 2012, mapeo paralelo y secuenciación simultánea: deleciones en BCAN y FAM83H. PLoS Genet. PMID: 22253609
3. Gill JL et al. 2012, microdeleción de BCAN asociada al episodic falling. Neurobiol Dis. PMID: 21821125
4. Davis B et al. 2008, mutación en beta1-tubulina y macrotrombocitopenia en cavalier King Charles spaniels. J Vet Intern Med. PMID: 18466252
5. Awano T et al. 2009, mutación de SOD1 en la mielopatía degenerativa canina. Proc Natl Acad Sci U S A. PMID: 19188595

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