HCM-associated ALMS1 variant: Allele drop-out and frequency in Italian Sphynx cats.

Autor: Turba ME; Genefast srl, Forlì, Italy., Ferrari P; Osservatorio Veterinario Italiano Cardiopatie, Azzano San Paolo, Italy.; Clinica Veterinaria Orobica Anicura Via Zanica, Bergamo, Italy., Milanesi R; Department of Veterinary Medicine and Animal Science, University of Milan, Lodi, Italy., Gentilini F; Department of Veterinary Medical Sciences, University of Bologna, Ozzano dell'Emilia, Italy., Longeri M; Department of Veterinary Medicine and Animal Science, University of Milan, Lodi, Italy.
Jazyk: angličtina
Zdroj: Animal genetics [Anim Genet] 2023 Oct; Vol. 54 (5), pp. 643-646. Date of Electronic Publication: 2023 Jun 21.
DOI: 10.1111/age.13340
Abstrakt: Hypertrophic cardiomyopathy (HCM) is the most common cardiomyopathy in domestic cats, and some inherited variants are available for genetic testing. A variant of the Alstrom syndrome protein 1 gene (ALMS1) was recently reported to be associated with HCM in the Sphynx cat breed (A3: g.92439157G>C). Genetic screening of the variant, promoted by the Osservatorio Veterinario Italiano Cardiopatie and Genefast Laboratory, was offered to Sphynx cat owners and breeders in Italy. Genotype data were initially obtained by Sanger sequencing. In one case where the samples of a trio were available, inconsistency in the vertical transmission of the variant suggested an allele dropout (ADO) of the wt allele. A new external primer pair was designed as an alternative to the original. The larger PCR product obtained was sanger sequenced, and five novel single nucleotide variants (SNVs) not yet annotated in open-access databases were detected. Three of these SNVs were within the original primer-binding regions and were assumed to have caused ADO. The haplotype, including the ADO SNVs, was detected in two cats belonging to different lineages. To accurately genotype ALMS1 g.92439157G>C in the samples, we set up a real-time TaqMan MGB assay while avoiding all surrounding SNVs. At g.92439157G>C, for 136 Sphynx cats, g.92439157 C variant was highly widespread (freq. >0.50). The present study reports five new variants surrounding ALMS1 g.92439157G>C that must be considered when designing the test. The study also indicates the need to verify the correspondence between the g.92439157 C variant frequency and the prevalence of HCM by increasing clinical visits and follow-ups and finally to promote genetic counselling for accurate management of mating plans in Italian Sphynx cats.
(© 2023 The Authors. Animal Genetics published by John Wiley & Sons Ltd on behalf of Stichting International Foundation for Animal Genetics.)
Databáze: MEDLINE
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