A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers

Journal of Veterinary Internal Medicine
Steven G FriedenbergNatasha J Olby

Abstract

We aimed to identify mutations associated with osteochondromatosis in a litter of American Staffordshire Terrier puppies. We hypothesized that the associated mutation would be located in a gene that causes osteochondromatosis in humans. A litter of 9 American Staffordshire puppies, their sire and dam, 3 of 4 grandparents, 26 healthy unrelated American Staffordshire Terriers, and 154 dogs of 27 different breeds. Whole genome sequencing was performed on the proband, and variants were compared against polymorphisms derived from 154 additional dogs across 27 breeds, as well as single nucleotide polymorphism database 146. One variant was selected for follow-up sequencing. Parentage and genetic mosaicism were evaluated across the litter. We found 56,301 genetic variants unique to the proband. Eleven variants were located in or near the gene exostosin 2 (EXT2), which is strongly associated with osteochondromatosis in humans. One heterozygous variant (c.969C > A) is predicted to result in a stop codon in exon 5 of the gene. Sanger sequencing identified the identical mutation in all affected offspring. The mutation was absent in the unaffected offspring, both parents, all available grandparents, and 26 healthy unrelated American Staffor...Continue Reading

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Citations

Sep 6, 2019·Animal Genetics·V JagannathanUNKNOWN Dog Biomedical Variant Database Consortium (DBVDC)
Jun 27, 2019·Acta Veterinaria Scandinavica·Adriana CzerwikMartin Jürgen Schmidt
Dec 15, 2020·Journal of the American Veterinary Medical Association·Leticia EscauriazaNicolas Granger
Feb 26, 2021·Topics in Companion Animal Medicine·C I F SilvaA C Nepomuceno

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Methods Mentioned

BETA
PCR

Software Mentioned

Trimmomatic
Ensembl
Picard Tools
HaplotyeCaller
GATK
SnpEff
Burrows Aligner ( BWA )
Genome Analysis Toolkit ( GATK )

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