Ichthyosis (ICH-1)

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Related Terms: ARCI, Autosomal Recessive Congenital Ichthyosis, GR ICH1, ICH-A, Ichthyosis-A, ICT-A, PNPLA1

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Birth

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Sample Processing

Cost: $100.00

Species and Breeds
Canine - Golden Retriever

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Clinical signs included a mild to moderate or severe scaling. There are two forms of Ichthyosis in the Golden Retriever. The form (ICH-1; PNPL1) is characterized by flaky skin with small to large, whitish to brownish scales. Milder forms are manageable with baths and mineral oil.

Depends on the severity

Autosomal recessive

Mild to moderate laminar orthokeratotic hyperkeratosis with an absence of epidermal hyperplasia and dermal inflammation.

PNPLA1 and NM_001290109.1:c.1445_1447delinsTACTACTA

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Ichthyosis (ICH-1) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Ichthyosis (ICH-1) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Ichthyosis (ICH-1) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Grall A, Guaguère E, Planchais S, Grond S, Bourrat E, Hausser I, Hitte C, Le Gallo M, Derbois C, Kim GJ, Lagoutte L, Degorce-Rubiales F, Radner FP, Thomas A, Küry S, Bensignor E, Fontaine J, Pin D, Zimmermann R, Zechner R, Lathrop M, Galibert F, André C, Fischer J. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet. 2012 Jan 15;44(2):140-7. doi: 10.1038/ng.1056. PMID: 22246504. Guaguere E, Bensignor E, Küry S, Degorce-Rubiales F, Muller A, Herbin L, Fontaine J, André C. Clinical, histopathological and genetic data of ichthyosis in the golden retriever: a prospective study. J Small Anim Pract. 2009 May;50(5):227-35. doi: 10.1111/j.1748-5827.2009.00730.x. PMID: 19413748.