Ectodermal Dysplasia, X-Linked (Shepherd Type)
Affected Genes: EDA
Inheritance: X-Linked Recessive
Variant(canFam6):
chrX:45337794: G>A
Breed: German Shepherd Dog
Shiloh Shepherd
White Shepherd Dog
General Information: Ectodermal Dysplasia, X-Linked (Shepherd Type) is an inherited disorder in dogs, typically presenting at birth with symmetrical hairlessness on the forehead and lower back. Affected dogs often have malformed or missing teeth and may be unable to sweat due to abnormal sweat glands. Tear production can be abnormal, leading to dry eye, and these dogs are more prone to respiratory infections and chronic nasal discharge. While the prognosis for survival to adulthood is generally good, affected dogs should be closely monitored for potentially fatal respiratory infections.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Likely Affected
One Variant Detected: Dog Unlikely Affected
No Variants Detected: No Effect
Gene / Testing Information: Genetic testing of the EDA gene identifies carriers of Ectodermal Dysplasia, X-Linked (Shepherd Type) in dogs. This disorder is inherited in an X-linked recessive manner, meaning males need only one mutated gene to develop the disease, while females need two. Consequently, males are more frequently affected, though carrier females may show mild symptoms. Each male pup from a carrier mother has a 50% chance of inheriting the disorder. Reliable genetic testing is crucial for breeding practices to prevent the mutation from being passed on.
References:
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 81(5):1050-1056.
Casal ML, Mauldin EA, Ryan S, Scheidt JL, Kennedy J, Moore PF, Felsburg PJ. Frequent respiratory tract infections in the canine model of X-linked ectodermal dysplasia are not caused by an immune deficiency. Vet Immunol Immunopathol. 2005 107(1-2):95-104.
Casal ML, Scheidt JL, Rhodes JL, Henthorn PS, Werner P. Mutation identification in a canine model of X-linked ectodermal dysplasia. Mamm Genome 2005 16(7):524-531.
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 Molecular and therapeutic characterization of anti-ectodysplasin A receptor (EDAR) agonist monoclonal antibodies. Biol Chem. 2011 286(35):30769-30779.
Lewis JR, Reiter AM, Mauldin EA, Casal ML. Dental abnormalities associated with X-linked hypohidrotic ectodermal dysplasia in dogs. Orthod Craniofac Res. 2010 13(1):40-47.
Mauldin EA, Gaide O, Schneider P, Casal ML. Neonatal treatment with recombinant ectodysplasin prevents respiratory disease in dogs with X-linked ectodermal dysplasia. Am J Med Genet A. 2009 149A(9):2045-2049.
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 15(5):269-277.