Congenital Cornification Disorder

Gene: NSDHL

Transmission: X-linked dominant (incomplete)

Mutations:

Chihuahua mutation (1): Substitution, NSDHL gene; c.700 G>A, p.(G234R)

Chihuahua mutation (2): Deletion,  NSDHL gene; c.718|722 del.GAACA

Labrador Retriever mutation: Deletion, NSDHL gene; c507+220_9662 del

Medical systems: Dermal, dental

Breeds: Azawakh, Chihuahua, Labrador Retriever

References:

OMIA link: [2117-9615]

Donner J, Freyer J, Davison S, et al. (2023) Genetic prevalence and clinical relevance of canine Mendelian disease variants in over one million dogs.  PLoS Genet. 19(2):e1010651. [pubmed/36848397]

Mauldin EA, Elias PM. (2021) Ichthyosis and hereditary cornification disorders in dogs. Vet Dermatol 32:567-e154. [pubmed/34796560]

Leuthard, F, Lehner G, Jagannathan V, Leeb T, Welle M. (2019) A missense variant in the NSDHL gene in a Chihuahua with a congenital cornification disorder resembling inflammatory linear verrucous epidermal nevi. Anim Genet 50:768-771. [pubmed/31571289]

Bauer A, De Lucia M, Jagannathan V, et al. (2017) A large deletion in the NSDHL gene in Labrador Retrievers with a congenital cornification disorder. G3 (Bethesda) 7:3115-3121.  [pubmed/28739597]