Journal of veterinary internal medicine · 2026
Clinical and molecular genetic description of a Marfan-like syndrome in a Golden Retriever puppy.
СтатьяКлинический случайНазвание и аннотация: Перевод в очереди
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Lennertz Harrison T, McClosky Megan E, Fuentes Maria Del Mar, Niggel Jessica K, Casal Margret L, Murgiano Leonardo
Аннотация
BACKGROUND: Marfan syndrome (MFS) is a genetic fibrillin disorder causing cardiac, ocular, and musculoskeletal pathology; it is not well reported on in dogs, with minimal descriptions of antemortem diagnosis.
HYPOTHESIS/OBJECTIVES: Use whole-genome sequencing (WGS) to diagnose a dog with suspected MFS to guide prognostication and potential treatment.
ANIMALS: A client-owned, 10-month-old Golden Retriever presented with signs of possible connective tissue disorder. Blood and DNA samples from a non-affected German Shepherd-Beagle mix and 160 unrelated Golden Retrievers were used as controls.
METHODS: Physical examination, blood collection, and radiography were performed on the dog while at the hospital. Whole-genome sequencing was performed on DNA from the affected dog. Genetic analysis focused on single-nucleotide variants, small insertion-deletions, and structural variants to detect potential disease-causing genetic variants in the genome, prioritizing candidate genes. Polymerase chain reaction amplification and Sanger sequencing of a suspected region were carried out to confirm presence of the candidate pathogenic variant.
RESULTS: The dog was presented for cardiology consultation and had clinical signs of cardiac enlargement, pneumothorax, and joint hypermobility. After genetic analysis, a 3618 base pair deletion encompassing exon 24 of the FBN1 gene on 1 allele was detected (NC_049251.1:g.14998228_15001846del), likely causing an in-frame deletion in the coding sequence.
CONCLUSIONS AND CLINICAL IMPORTANCE: Physical and complementary examination findings are suggestive of MFS and associated with a causal deletion variant.
HYPOTHESIS/OBJECTIVES: Use whole-genome sequencing (WGS) to diagnose a dog with suspected MFS to guide prognostication and potential treatment.
ANIMALS: A client-owned, 10-month-old Golden Retriever presented with signs of possible connective tissue disorder. Blood and DNA samples from a non-affected German Shepherd-Beagle mix and 160 unrelated Golden Retrievers were used as controls.
METHODS: Physical examination, blood collection, and radiography were performed on the dog while at the hospital. Whole-genome sequencing was performed on DNA from the affected dog. Genetic analysis focused on single-nucleotide variants, small insertion-deletions, and structural variants to detect potential disease-causing genetic variants in the genome, prioritizing candidate genes. Polymerase chain reaction amplification and Sanger sequencing of a suspected region were carried out to confirm presence of the candidate pathogenic variant.
RESULTS: The dog was presented for cardiology consultation and had clinical signs of cardiac enlargement, pneumothorax, and joint hypermobility. After genetic analysis, a 3618 base pair deletion encompassing exon 24 of the FBN1 gene on 1 allele was detected (NC_049251.1:g.14998228_15001846del), likely causing an in-frame deletion in the coding sequence.
CONCLUSIONS AND CLINICAL IMPORTANCE: Physical and complementary examination findings are suggestive of MFS and associated with a causal deletion variant.