Ectodermal Dysplasia, X-Linked (Shepherd Type)

Category:

Dermatologic - Associated with the skin

Gene:

EDA

Variant Detected:

c.910-1G>A

Severity:

Moderate. This disease can cause significant signs of discomfort and/or dysfunction in affected animals. It may involve relatively high treatment/management costs, and can sometimes reduce life expectancy.

Mode of Inheritance:

Autosomal X-Linked

Recommended Screening:

Genetic testing of the EDA gene in dogs will reliably determine if a dog is a genetic carrier of Ectodermal Dysplasia X-Linked (Shepherd Type).

Research Citation(s):

Casal ML, Lewis JR, Mauldin EA, Tardivel A, Ingold K, Favre M, Paradies F, Demotz S, Gaide O, Schneider P. Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. Am J Hum Genet. 2007 Nov; 81(5):1050-6. [PubMed: 17924345] Casal ML, Mauldin EA, Ryan S, Scheidt JL, Kennedy J, Moore PF, Felsburg PJ. Vet Immunol Immunopathol. Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency. 2005 Aug 15; 107(1-2):95-104. [PubMed: 15946744] Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P. Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome. 2005 Jul; 16(7):524-31. [PubMed: 16151697] Kowalczyk C, Dunkel N, Willen L, Casal ML, Mauldin EA, Gaide O, Tardivel A, Badic G, Etter AL, Favre M, Jefferson DM, Headon DJ, Demotz S, Schneider P. J Biol Chem. 2011 Sep 2; 286(35):30769-79. Molecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodies. [PubMed: 21730053] Lewis JR, Reiter AM, Mauldin EA, Casal ML. Orthod Craniofac Res. 2010 Feb; 13(1):40-7. Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. [PubMed: 20078794] Mauldin EA, Gaide O, Schneider P, Casal ML. Am J Med Genet A. 2009 Sep; 149A(9):2045-9. Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. [PubMed: 19533784] Moura E, Cirio SM. Clinical and genetic aspects of X-linked ectodermal dysplasia in the dog -- a review including three new spontaneous cases. Vet Dermatol. 2004 Oct; 15(5):269-77. [PubMed: 15500478]

Associated Breed(s):

Mixed Breed,