Polydactyl canine case: Exploring possible linkage between anomalies, secondary infertility and SHH/ALX4 mutations

IF 0.3 Q4 VETERINARY SCIENCES

Veterinary Record Case Reports Pub Date : 2024-07-29 DOI:10.1002/vrc2.968

Tolulope G. Ogundipe, Matthew P. Ameh, Jeremiah O. Bamikole

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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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多指犬病例：探索异常、继发性不孕症和 SHH/ALX4 基因突变之间可能存在的联系

本病例报告详细描述了一窝纯种高加索幼犬多指畸形的异常表现，其中母犬表现出多指畸形的特征，而父犬则被怀疑具有不完全的多指畸形遗传性。除一只幼犬外，所有同窝幼犬都表现出严重的产后死亡，并在出生时出现多指畸形。在一窝六只幼犬中，只有 Luna 存活下来，死亡率约为 83.33%。存活下来的幼犬卢娜出现了多趾畸形、四肢发育短小、双排牙齿、胸腰部触痛、贫血和巴贝西亚原虫病等异常现象。此外，该母牛还表现出继发性不孕症，这促使我们对可能的遗传影响因素进行了文献综述。然而，我们怀疑SHH和ALX4突变可能会干扰声刺猬和Wnt/beta-catenin信号通路，从而导致观察到的临床症状，尤其是对生殖器官发育至关重要的Wnt/beta-catenin信号的作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Veterinary Record Case Reports Veterinary-Veterinary (all)

CiteScore

0.50

自引率

33.30%

发文量

266

期刊介绍： Vet Record Case Reports is an online resource that publishes articles in all fields of veterinary medicine and surgery so that veterinary professionals, researchers and others can easily find important information on both common and rare conditions. Articles may be about a single animal, herd, flock or other group of animals managed together. Common cases that present a diagnostic, ethical or management challenge, or that highlight aspects of mechanisms of injury, pharmacology or histopathology are deemed of particular educational value. All articles are peer reviewed and copy edited before publication.