Hypotrichose congénitale en race bovine normande. I. – Étude descriptive

Jean-François, Denis, Bernard, André, Catherine, Chaudieu, Gilles, Colas, Gilbert, Courreau,; Théret, Marcel; Blin, PC; Bernard, CL; Lauvergne, JJ

doi:10.1186/1297-9686-7-3-251

Cited by 2 publications

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“…Similar to its human counterpart, the bovine EDAR -related condition is transmitted as an autosomal recessive trait (OMIA 002128-9913) [ 28 ]. There are accounts in the peer-reviewed literature of other HED-like syndromes which are based on clinical signs and lesions alone [ 29 , 30 , 31 , 32 ].…”

Section: Introductionmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

O’Toole

Häfliger

Leuthard

et al. 2021

Animals

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X-linked hypohidrotic ectodermal dysplasia-1 (ECTD1) in people results in a spectrum of abnormalities, most importantly hypotrichosis, anodontia/oligodontia, and absent or defective ectodermally derived glands. Five Red Angus-Simmental calves born over a 6-year period demonstrated severe hypotrichosis and were diagnosed as affected with ECTD1-like syndrome. Two died of severe pneumonia within a week of birth. The skin of three affected calves revealed a predominance of histologically unremarkable small-caliber hair follicles. Larger follicles (>50 µm) containing medullated hairs (including guard and tactile hairs) were largely restricted to the muzzle, chin, tail, eyelids, tragus and distal portions of the limbs and tail. The mean histological density of hair follicles in flank skin of two affected calves was slightly greater than that in two unaffected calves. One affected calf was examined postmortem at 10 days of age to better characterize systemic lesions. Nasolabial, intranasal and tracheobronchial mucosal glands were absent, whereas olfactory glands were unaffected. Mandibular incisor teeth were absent. Premolar teeth were unerupted and widely spaced. Other than oligodontia, histological changes in teeth were modest, featuring multifocal disorganization of ameloblasts, new bone formation in dental alveoli, and small aggregates of osteodentin and cementum at the margins of the enamel organ. A 52,780 base pair deletion spanning six out of eight coding exons of EDA and all of AWAT2 was identified. Partial deletion of the EDA gene is the presumed basis for the reported X-chromosomal recessive inherited genodermatosis.

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Section: Introductionmentioning

confidence: 99%

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

O’Toole

Häfliger

Leuthard

et al. 2021

Animals

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“…In agreement with previous reports, we demonstrated a reduced hair follicle density [5,7,9,13], the dilation of the sweat glands [5,9,13], a higher proportion of hair follicles in the telogen phase [5,[12][13][14] and perivascular dermatitis [13]. The number of hair follicles in normal cattle were at 57.6 ± 2.0 per mm 2 in an one-day-old Jersey calf [49] and 30-60 per mm 2 in an eight-month-old Norman cattle [50], whereas the counts of hair follicles from different body areas in the present study at different ages were at 1.3-22.8 hair follicles per mm 2 . These results show that case 1 and case 2 exhibited a greatly reduced follicle density in the areas with a visually normal coat as well as in the body parts with thin hairs on the parts which were hairless at birth.…”

Section: Discussionmentioning

confidence: 99%

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle

Reinartz,

Weiß,

Heppelmann

et al. 2023

Genes

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Mutations within the ectodysplasin A (EDA) gene have been associated with congenital hypotrichosis and anodontia (HAD/XHED) in humans, mice, dogs and cattle. We identified a three-generation family of Fleckvieh cattle with male calves exhibiting clinical and histopathological signs consistent with an X-linked recessive HAD (XHED). Whole genome and Sanger sequencing of cDNA showed a perfect association of the missense mutation g.85716041G>A (ss2019497443, rs1114816375) within the EDA gene with all three cases following an X-linked recessive inheritance, but normal EDAR and EDARADD. This mutation causes an exchange of glycine (G) with arginine (R) at amino acid position 227 (p.227G>R) in the second collagen triple helix repeat domain of EDA. The EDA variant was associated with a significant reduction and underdevelopment of hair follicles along with a reduced outgrowth of hairs, a complete loss of seromucous nasolabial and mucous tracheal and bronchial glands and a malformation of and reduction in number of teeth. Thermostability of EDA G227R was reduced, consistent with a relatively mild hair and tooth phenotype. However, incisors and canines were more severely affected in one of the calves, which correlated with the presence of a homozygous missense mutation of RNF111 (g.51306765T>G), a putative candidate gene possibly associated with tooth number in EDA-deficient Fleckvieh calves.

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Hypotrichose congénitale en race bovine normande. I. – Étude descriptive

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Cited by 2 publications

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X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

X-Linked Hypohidrotic Ectodermal Dysplasia in Crossbred Beef Cattle Due to a Large Deletion in EDA

A Missense Mutation in the Collagen Triple Helix of EDA Is Associated with X-Linked Recessive Hypohidrotic Ectodermal Dysplasia in Fleckvieh Cattle

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