Peer-reviewed veterinary case report
Polydactyl puppies and infertility linked to SHH and ALX4 mutations
By Ogundipe, Tolulope G. et al.·Published in Veterinary Record Case Reports·2024·Faculty of Veterinary Clinical Medicine University of Bologna Bologna Italy, Italy·View original on Crossref →
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Original publication title: Polydactyl canine case: Exploring possible linkage between anomalies, secondary infertility and SHH/ALX4 mutations
- Species:
- dog
Plain-English summary
A litter of purebred Caucasian puppies had a serious problem when most of them died shortly after birth, with only one puppy, named Luna, surviving. Luna was born with several issues, including extra toes on her back legs, short limbs, double rows of teeth, and signs of anemia and a tick-borne disease called babesiosis. The mother dog also faced challenges with infertility, which led to concerns about possible genetic factors affecting the puppies. Luna's unique traits may be linked to specific genetic mutations that impact development. Thankfully, Luna is the only one that survived from the litter.
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Abstract
Abstract This case report details an unusual manifestation of polydactyly in a litter of purebred Caucasian puppies, where the dam exhibited polydactyl traits while the sire is suspected to have an incomplete penetrance of the trait. All littermates, except one, manifest severe postnatal mortality and displayed polydactyl at birth. Out of a litter of six puppies, only Luna survived, resulting in a mortality rate of approximately 83.33%. Luna, the surviving pup, presented with anomalies including polydactyly on both pelvic limbs, short limb development, double row teeth, thoracolumbar tenderness, anaemia and babesiosis. Furthermore, the dam also exhibited secondary infertility, which prompted a literature review on probable genetic influences. However, we suspect SHH and ALX4 mutations due to their possible interference with sonic hedgehog and Wnt/beta‐catenin signalling pathways as being causal for the observed clinical signs, particularly the role of Wnt/beta‐catenin signalling, which is crucial for reproductive organ development.
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Search related cases →Original publication on Crossref: https://doi.org/10.1002/vrc2.968