Platelet Dysfunction Overview
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Category: Haemolymphatic - Associated with the blood and lymph
Gene: RAS guanyl releasing protein 1 (RASGRP1) on Chromosome 30
Variant Detected: Eskimo Spitz: Nucleotide Insertion, c.452insA, p.Ser266Stop Basset Hound: Nucleotide Deletion, c.509-511delTCT, p.del170Phe
Severity: Scale 4 has a high degree of severity. It generally causes a decreased quality of life and may also decrease the life expectancy.
Mode of Inheritance: Autosomal Recessive
Test Overview: Also known as Thrombopathia a bleeding disorder where platelets are unable to adhere properly to one another leading to clot. Common symptoms include nose bleeds and excessive bleeding around the gums. dogs may also bruise easily (hematomas).
Research Citation(s): Boudreaux MK, et al. Calcium-diacylglycerol guanine nucleotide exchange factor I gene mutations associated with loss of function in canine platelets. (2006) Trans Res, 150(2);81-92.
Associated Breed(s): Mixed Breed, Bassett Hound , American Eskimo Dog,