Identification of anframeshift variant associated with factor XIII deficiency in a Coonhound dog with severe coagulopathy

Source: PubMed Central Open Access, NCBI / U.S. National Library of Medicine

Abstract Background Factor XIII (FXIII) deficiency is a rare autosomal recessive bleeding disorder characterized by unstable fibrin clots and severe hemorrhagic complications. In humans, pathogenic variants have been described inand, which encode the subunits comprising the FXIII heterotetramer. However, cases in animals are exceedingly rare. abs1 Hypothesis/Objectives The objective of this work was to characterize a naturally occurring FXIII deficiency in a dog. abs2 Animals A 4-month-old male Black and Tan Coonhound presented with spontaneous hemoperitoneum, thrombocytopenia, and persistent bleeding after surgical procedures. abs3 Methods Hemostasis testing and whole genome sequencing were performed to characterize the phenotypic and molecular genetic basis of the bleeding disorder. abs4 Results A functional FXIII deficiency was identified, and a private, homozygous variant (c.1234_1239delinsTCAA) was found in exon 11 ofthat predicts a frameshift and premature stop codon. abs5 Conclusions and clinical importance This report represents only the second clinical description of FXIII deficiency in dogs and the first genetic characterization of this disorder in companion animals. The identifiedvariant provides a molecular diagnosis and enables genetic testing for this bleeding disorder in Black and Tan Coonhounds should additional cases arise. abs6