X-linked hypohidrotic ectodermal dysplasia in crossbred beef cattle due to a large deletion in eda

Donal O’toole, Irene M. Häfliger, Fabienne Leuthard, Brant Schumaker, Lynn Steadman, Brian Murphy, Cord Drögemüller, Tosso Leeb

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

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 demon-strated 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 predomi-nance 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 disor-ganization 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.

Original languageEnglish (US)
Article number657
Pages (from-to)1-12
Number of pages12
JournalAnimals
Volume11
Issue number3
DOIs
StatePublished - Mar 2021

Keywords

  • Bos taurus
  • Cattle
  • Dermatology
  • Development
  • Ectodysplasin
  • Genodermatosis
  • Hypodontia
  • Hypotrichosis
  • Oligodontia
  • Whole genome sequencing

ASJC Scopus subject areas

  • Animal Science and Zoology
  • veterinary(all)

Fingerprint

Dive into the research topics of 'X-linked hypohidrotic ectodermal dysplasia in crossbred beef cattle due to a large deletion in eda'. Together they form a unique fingerprint.

Cite this