Congenital hypotrichosis with anodontia in cattle: A genetic, clinical and histological analysis

Drögemüller, Cord; Kuiper, H.; Peters, Martin C.; Guionaud, Silvia; Distl, O.; Leeb, Tosso

doi:10.1046/j.1365-3164.2002.00313.x

Cited by 30 publications

(40 citation statements)

References 18 publications

(46 reference statements)

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“…The lesions in affected calves belonging to this family of Red Holsteins were consistent with XHED and phenotypically similar to previously reported cases in German Holsteins, German Red Holsteins and a crossbred beef calf (Drogemuller et al 2002a;Barlund et al 2007), although minor variations in, for example, number of teeth were found. Histological skin lesions varied between the cases, with the pure hypoplastic appearance being more evident in cases ID 0000 and ID 0001 compared to the 7-month-old case with conspicuous dermatitis.…”

Section: Discussionsupporting

confidence: 90%

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Karlskov-Mortensen¹,

Cirera²,

Nielsen³

et al. 2011

Animal Genetics

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A case of X-linked hypohidrotic ectodermal dysplasia (XHED) was identified in a family of Danish Red Holstein cattle. The ectodysplasin-signalling protein (EDA) is known to be central in the normal development of ectodermal structures, and mutations in the ectodysplasin A (EDA) gene have been reported to cause XHED. In this study, we analysed different EDA transcript variants in affected and unaffected cattle and identified a new transcript variant including a LINE1-derived pseudoexon between EDA exons 1 and 2. The 161-bp-long pseudoexon introduces a shift in reading frame and a premature stop codon early in EDA exon 2 and is probably the cause of XHED in this Danish Red Holstein family.

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Section: Discussionsupporting

confidence: 90%

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Karlskov-Mortensen¹,

Cirera²,

Nielsen³

et al. 2011

Animal Genetics

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“…61 In cattle, congenital hypotrichosis associated with severe dental abnormalities (also called 'hypotrichosis and anodontia defect') has been described in several breeds. 48,49,62,[64][65][66][67][68][69] Other reports of hypotrichosis and dental dysplasia in cattle are probably also variants of anhydrotic ectodermal dysplasia. 70,71 As in humans, mice, and dogs, the disease shows an X-linked monogenetic recessive inheritance and primarily occurs in male calves.…”

Section: Aplasia Of Hair Follicles With Dental Dysplasia (Analogous Tmentioning

confidence: 99%

An overview on congenital alopecia in domestic animals

Mecklenburg¹

2006

Veterinary Dermatology

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Alopecia, that is, lack of hair in any quantity, is a frequent complaint of pet owners. Although mostly acquired, rare congenital forms of alopecia exist that are associated with abnormalities in hair follicle morphogenesis. Congenital alopecias can result in changes in quality or quantity of hair follicles and the hair fibres produced by them. They vary in terms of clinical presentation and mode of inheritance. Histopathology is usually needed in order to differentiate between a reduced number of otherwise normal hair follicles and qualitative hair follicle abnormalities. Although our understanding of the molecular mechanisms that drive hair follicle morphogenesis in mice and humans has significantly increased during the last decade, still very little is known about congenital alopecias in domestic animals. Because of their rarity and the general lack of knowledge about their pathophysiology, classification of congenital alopecias in domestic animals is still unsatisfactory. This article reviews hair follicle morphogenesis and its most important molecular mechanisms, and it discusses the various forms of congenital alopecia occurring in domestic animals that have been described in the literature, differentiating between hair follicle aplasia, hair follicle dysplasia (i.e. defects associated with hair follicle development and defects associated with hair shaft formation), and neuroectodermal dysplasias, the latter involving the hair follicle pigmentary system.

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“…The affected bulls of a black-and-white German Holstein cattle pedigree showed a generalized hypotrichosis, an almost complete lack of teeth, and the complete absence of eccrine nasolabial glands (Fig. 1D) [6]. A further case of a similar phenotype characterized by hypotrichosis and nearly completely missing teeth has been observed in a family of red-andwhite German Holstein cattle (Fig.…”

Section: Phenotypementioning

confidence: 73%

“…Other reported forms of hypotrichosis in cattle are phenotypically less similar to these cases. Recently, two independent cattle pedigrees showed congenital hypotrichosis with oligodontia [6,8]. The affected bulls of a black-and-white German Holstein cattle pedigree showed a generalized hypotrichosis, an almost complete lack of teeth, and the complete absence of eccrine nasolabial glands (Fig.…”

Section: Phenotypementioning

confidence: 99%

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X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

Drögemüller¹,

Distl²,

Leeb³

2003

Genet. Sel. Evol.

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-Ectodermal dysplasias are a large group of rare genetic disorders characterized by impaired development of hair, teeth, and eccrine glands in humans, mice, and cattle. Here, we review the cloning, mutation analyses, and functional studies of the known causative genes for the X-chromosomal anhidrotic ectodermal dysplasia (ED1) in these species. Mutations in the ectodysplasin 1 (ED1) gene are responsible for X-linked anhidrotic ectodermal dysplasia. The ED1 gene encodes a signaling molecule of the tumor necrosis factor family that is involved in development of ectodermal appendages. The bovine disorder may serve as an animal model for human ED1. PhenotypeClinical geneticists have recorded over 100 evidently distinct human syndromes named ectodermal dysplasia (ED) that affect the development of sweat glands, hair, teeth and nails, together or in different combinations [22]. The embryonic development of all these structures is the result of interactions between the epithelium and mesenchyme. The most common form of ED in man, the anhidrotic (hypohidrotic) ectodermal dysplasia (ED1, also called EDA, HED or Christ-Siemens-Touraine syndrome) is characterized by heat intolerance with excessively dry skin due to the absence of sweat glands, and abnormal spiky or absent teeth. Affected individuals have sparse hair on the scalp and body, whereas facial and pubic hair are unaffected. Recently, the genes for the X-linked ED1 (MIM305100 [14,22]) and two indistinguishable, autosomally inherited types of ED (MIM604095; MIM606603 [12,13,22]) were cloned.

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Congenital hypotrichosis with anodontia in cattle: A genetic, clinical and histological analysis

Cited by 30 publications

References 18 publications

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

Exonization of a LINE1 fragment implicated in X-linked hypohidrotic ectodermal dysplasia in cattle

An overview on congenital alopecia in domestic animals

X-linked anhidrotic ectodermal dysplasia (ED1) in men, mice, and cattle

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