A de novo EDA -variant in a litter of shorthaired standard Dachshunds with X-linked hypohidrotic ectodermal dysplasia
A de novo EDA -variant in a litter of shorthaired standard Dachshunds with X-linked hypohidrotic ectodermal dysplasia
Abstract In this study, we present a detailed phenotype description and genetic elucidation of the first case of X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund. This condition is characterized by partial alopecia, missing and malformed teeth and a lack of eccrine sweat glands. Clinical signs including dental X-raying and histopathological findings were consistent with an ectodermal dysplasia. Pedigree analysis supported an X-recessive mode of inheritance. Whole-genome sequencing of one affected puppy and his dam identified a 1-basepair deletion within the ectodysplasin-A gene (CM000039.3:g.54509504delT, PRJEB27789). Sanger sequencing of further family members confirmed the PRJEB27789-variant. Validation in all available family members, 37 unrelated shorthaired standard Dachshunds, 128 Dachshunds from all other breeds and samples from 34 dog breeds revealed the PRJEB27789 variant to be private for this family. Two heterozygous females showed very mild alopecia but normal dentition. Since the dam is demonstrably the only heterozygous animal in the ancestry of the affected animals, we assume that the PRJEB27789-variant arose in the germline of the granddam or in an early embryonic stage of the dam. In conclusion, we detected a very recent de-novo EDA mutation causing X-linked hypohidrotic ectodermal dysplasia in the shorthaired standard Dachshund.
Metzger Julia、Distl Ottmar、Klotz Daniela、Ruseva Stefka、Hewicker-Trautwein Marion、Arndt Jennifer、Fehr Michael、Vasiliadis Danae
Institute of Animal Breeding and Genetics, University of Veterinary Medicine HanoverInstitute of Animal Breeding and Genetics, University of Veterinary Medicine HanoverInstitute of Pathology, University of Veterinary Medicine HanoverClinic for Small Animals, University of Veterinary Medicine HanoverInstitute of Pathology, University of Veterinary Medicine HanoverClinic for Small Animals, University of Veterinary Medicine HanoverClinic for Small Animals, University of Veterinary Medicine HanoverInstitute of Animal Breeding and Genetics, University of Veterinary Medicine Hanover
遗传学口腔科学基础医学
ectodermal dysplasiacaninewhole-genome sequencingX-linked inheritanceEctodysplasin-A
Metzger Julia,Distl Ottmar,Klotz Daniela,Ruseva Stefka,Hewicker-Trautwein Marion,Arndt Jennifer,Fehr Michael,Vasiliadis Danae.A de novo EDA -variant in a litter of shorthaired standard Dachshunds with X-linked hypohidrotic ectodermal dysplasia[EB/OL].(2025-03-28)[2025-05-03].https://www.biorxiv.org/content/10.1101/397372.点此复制
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