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Ectodermal Dysplasia, X-Linked (Shepherd Type)

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Test Overview:

Ectodermal Dysplasia X-Linked (Shepherd Type) affects dogs and is an inherited disease, and is most common at birth. Affected dogs are born with symmetrical hairlessness on the forehead and the area over the lower back. Malformed and/or absent teeth (oligodontia) are also associated features of the disorder. Dogs affected by the disease may also be unable to sweat (anhidrosis) due to missing or abnormal sweat glands. Additionally, their tear production can be abnormal and dogs often develop dry eye (keratoconjuncitivitis sicca). Affected dogs are more prone to respiratory infections than other dogs and will therefore frequently have chronic nasal discharge. The prognosis for survival to adulthood is good, however, affected dogs should be monitored for signs of respiratory infections (rapid or difficult breathing, coughing and exercise intolerance) as they can sometimes be fatal.

Category:

Dermatologic - Associated with the skin

Gene:

EDA

Variant Detected:

chrX:54511433 (canFam3): G>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,
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