Genetic analysis of a possible case of canine X‐linked ectodermal dysplasia

Moura, Enio; Daltro, Sérgio Ricardo Teixeira; Sás, Daíse Moreno; Filho, Jair Rodini Engrácia; Farias, Marconi Rodrigues de; Pimpão, Cláudia Turra

doi:10.1111/jsap.13385

Cited by 4 publications

(4 citation statements)

References 28 publications

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“…18,54,63,141,146 In a poodle, however, which presented with clinical signs of X-linked HED, no variants in the EDA gene were identified, suggesting that other genes may also cause this disease in dogs. 93 Aplasia of HFs without dental dysplasia have, to the best of our knowledge, not been reported in the literature in dogs, although they most likely exist. 84 There are reports from swine in which the number of HFs is significantly reduced but the apocrine sweat glands and the teeth are not affected.…”

Section: Follicular Aplasiamentioning

confidence: 79%

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Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid

Welle

2023

Vet Pathol

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Noninflammatory alopecia is common in dogs and is a frequent cause to consult a veterinarian. It is also a common reason to take biopsies. Noninflammatory alopecia can be attributed to a decreased formation or cytodifferentiation of the hair follicle or the hair shaft in utero, resulting in congenital alopecia. Congenital alopecia often has a hereditary cause, and examples of such disorders are ectodermal dysplasias associated with gene variants of the ectodysplasin A gene. Noninflammatory alopecia may also be caused by impaired postnatal regeneration of hair follicles or shafts. Such disorders may have a clear breed predilection, and alopecia starts early in life. A hereditary background is suspected in those cases but has not been proven. They are referred to as follicular dysplasia although some of these disorders present histologically like a hair cycle disturbance. Late-onset alopecia is usually acquired and may be associated with endocrinopathies. Other possible causes are impaired vascular perfusion or stress. As the hair follicle has limited possible responses to altered regulation, and histopathology may change during the course of a disease, a detailed clinical history, thorough clinical examination including blood work, appropriate biopsy site selection, and detailed histological findings need to be combined to achieve a final diagnosis. This review aims to provide an overview about the known noninflammatory alopecic disorders in dogs. As the pathogenesis of most disorders is unknown, some statements are based on comparative aspects or reflect the authors’ opinion.

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Section: Follicular Aplasiamentioning

confidence: 79%

Section: Alopecia With Congenital Onsetmentioning

confidence: 99%

Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid

Welle

2023

Vet Pathol

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“…In more chronic cases, scaling and hyperpigmentation may occur [ 14 ]. This needs to be differentiated from ectodermal dysplasia, where other structures such as sweat glands, sebaceous glands, respiratory glands, lacrimal glands, claws, and teeth are involved as well [ 141 ]. A definitive diagnosis of congenital alopecia is made through the collection of multiple skin biopsies from different skin sites that exhibit a complete absence or a decreased number of hair follicles [ 14 , 15 ].…”

Section: Skin Diseases In Brachycephalic Breeds That Are Not Directly...mentioning

confidence: 99%

Dermatological Problems of Brachycephalic Dogs

Hobi

Barrs

Bęczkowski

2023

Animals

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Brachycephalic dogs are not only affected by brachycephalic obstructive airway syndrome (BOAS), but are also frequently referred to veterinary dermatologists for skin conditions, with English bulldogs and pugs particularly over-represented. Some skin diseases, such as skin fold dermatitis, are directly associated with the abnormal anatomic conformation of brachycephalic dogs, while for others, such as atopic dermatitis and viral pigmented plaques, there is an underlying genetic basis or a general predisposition. Anatomic alterations associated with brachycephaly, leading to fold formation of the skin and stenosis of the ear canal, together with primary immunodeficiencies described in some breeds, favor the development of pyoderma, Malassezia dermatitis, and otitis externa/media. In addition, the frequently neglected but often lifelong dermatological problems of brachycephalic dogs are an important consideration when discussing genetic and medical conditions affecting the welfare of those dogs. Here we review the current state of knowledge concerning dermatological problems in brachycephalic dogs and combine it with clinical experience in the management of these challenging disorders.

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“…Milder forms of HED have been observed in females [21]. In dogs, HED has been described in various breeds, such as German Shepherds, Dachshunds, Poodles, and mixed breeds [22][23][24][25]. The prevalence of the disease has not been estimated in animals, but in humans, the disease occurred in 1 of 17,000 children [26].…”

Section: Introductionmentioning

confidence: 99%

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses

Krull,

Bleyer,

Schäfer

et al. 2024

PLoS ONE

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Ectodysplasin A related hypohidrotic ectodermal dysplasia (XLHED) is a well-studied fetal developmental disorder in mammals that mainly affects ectodermal structures. It has been identified in a variety of species, including mice, rats, dogs, cattle, and humans. Here, we report the clinical, histological, and molecular biological analyses of a case of XLHED in Limousin cattle. An affected Limousin calf showed pathognomonic signs of ectodermal dysplasia, i.e. sparse hair and characteristic dental aplasia. Histopathologic comparison of hairy and glabrous skin and computed tomography of the mandible confirmed the phenotypic diagnosis. In addition, a keratoconjunctivitis sicca was noted in one eye, which was also confirmed histopathologically. To identify the causative variant, we resequenced the bovine X-chromosomal ectodysplasin A gene (EDA) of the affected calf and compared the sequences to the bovine reference genome. A single missense variant (rs439722471) at position X:g.80411716T>C (ARS-UCD1.3) was identified. The variant resulted in an amino acid substitution from glutamic acid to glycine within the highly conserved TNF-like domain. To rule out the possibility that the variant was relatively common in the cattle population we genotyped 2,016 individuals including 40% Limousin cattle by fluorescence resonance energy transfer analysis. We also tested 5,116 multibreed samples from Run9 of the 1000 Bull Genomes Project for the said variant. The variant was not detected in any of the cattle tested, confirming the assumption that it was the causative variant. This is the first report of Ectodysplasin A related hypohidrotic ectodermal dysplasia in Limousin cattle and the description of a novel causal variant in cattle.

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Genetic analysis of a possible case of canine X‐linked ectodermal dysplasia

Cited by 4 publications

References 28 publications

Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid

Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid

Dermatological Problems of Brachycephalic Dogs

A missense mutation in the highly conserved TNF-like domain of Ectodysplasin A is the candidate causative variant for X-linked hypohidrotic ectodermal dysplasia in Limousin cattle: Clinical, histological, and molecular analyses

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