Ectodermal Dysplasia, X-chr. linked

Gene: EDA

Transmission: Recessive X-chromosome linked

For an X-linked recessive genetic disease, a male must have one copy of the mutation in question to be at risk of developing the disease.  All affected males transmit the mutation to all the females of their offspring.  A female must have two copies of the mutation in question to be at risk of developing the disease.  Females with only one copy of the mutation are not at risk of developing the disease but are carrier animals that can pass the mutation on to future generations.

Mutations:

German Shepherd type: Substitution, EDA gene; c.910-1 G>A, intron 8,9

Dachshund type: Deletion, EDA gene; c.842 del. T, p.(281H fs STOP 22)

Medical system: Dermal

Breeds: Dachshund Standard Longhair/Shorthair, German Shepherd

References:

OMIA link: [0543-9615]

Welle MM. (2023) Canine noninflammatory alopecia: An approach to its classification and a diagnostic aid. Vet Pathol: 3009858231170295.  [pubmed/37191329]

Hadji Rasouliha S, Bauer A, Dettwiler M, et al. (2018) A frameshift variant in the EDA gene in Dachshunds with X-linked hypohidrotic ectodermal dysplasia. Anim Genet 49:651-654. [pubmed/30276836]

Waluk DP, Zur G, Kaufmann R et al. (2016) A splice defect in the EDA gene in dogs with an X-linked hypohidrotic ectodermal dysplasia (XLHED) phenotype. G3 6:2949-2954. [pubmed/27449516]

Lewis JR, Reiter AM, Mauldin EA, Casal ML. (2010) Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. Orthod Craniofac Res. 13(1):40-7. [pubmed/20078794]

Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P. (2005) Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome. 16(7):524-31. [pubmed/16151697]

Moura E, Cirio SM. (2004) Clinical and genetic aspects of X-linked ectodermal dysplasia in the dog – a review including three new spontaneous cases. Vet Dermatol. 15(5):269-77. [pubmed/15500478]