Trapped Neutrophil Syndrome in a Border Collie Dog: Clinical, Clinico-Pathologic, and Molecular Findings

• Published in: Journal of Veterinary Medical Science Vol. 74; no. 6; pp. 797 - 800
• Main Authors: MIZUKAMI, Keijiro, SHOUBUDANI, Tomoaki, NISHIMOTO, Seira, KAWAMURA, Ryuta, YABUKI, Akira, YAMATO, Osamu
• Format: Journal Article
• Language: English
• Published: Japan JAPANESE SOCIETY OF VETERINARY SCIENCE 2012
• Subjects: Animals; Base Sequence; Border Collie dog; Cohen syndrome; Dog Diseases - genetics; Dog Diseases - pathology; Dogs; Electrophoresis, Microchip - veterinary; Genotype; Japan; Male; Molecular Sequence Data; neutropenia; Neutropenia - genetics; Neutropenia - pathology; Neutropenia - veterinary; Polymerase Chain Reaction - veterinary; Sequence Analysis, DNA - veterinary; Sequence Deletion - genetics; Syndrome; trapped neutrophil syndrome; Vesicular Transport Proteins - genetics; Japan
• ISSN: 0916-7250; 1347-7439
• DOI: 10.1292/jvms.11-0472

Trapped neutrophil syndrome (TNS) is an autosomal recessive inherited neutropenia known in Border Collies since the 1990’s. Recently, the causative mutation has been identified in the canine VPS13B gene and a DNA-based diagnosis has now become available. The present paper describes clinical and clinico-pathologic findings in a Border Collie with TNS that was molecularly diagnosed for the first time in Japan. In a 10-week-old male Border Collie with microgenesis and symptoms related to recurrent infections, a hematological examination revealed severe leukopenia due to neutropenia, suggesting the dog to be affected by inherited neutropenic immunodeficiency. Direct DNA sequencing demonstrated that the dog was homozygous for the causative mutation of TNS and both its parents were heterozygous carriers. In addition, a simple and rapid polymerase chain reaction-based length polymorphism analysis coupled with microchip electrophoresis was developed for the genotyping of TNS. This assay could discriminate clearly all genotypes, suggesting that it was suitable for both individual diagnosis and large-scale surveys for prevention.