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Ichthyosis, PNPLA1-related

Breed: Goldendoodle

Generic Phene Data

General

Disease Name
Ichthyosis, PNPLA1-related
Disease Name 2
Ichthyosis -A (Golden Retriever)
OMIA
1588
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Mutation 2
c.1451_1453delinsTACTACTA
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
ARCI, Autosomal Recessive Congenital Ichthyosis
Details
Ichthyosis is considered rare and appears to be breed specific, sometimes known as "fish scale" disease. It can resemble many other skin conditions such as allergies, dermatitis, and localized reactions. Most often present at birth, and can be painful. Symptoms include: thickened pads of his paws, irritated, flaking skin, may not itch or scab, also can cause thickened skin with scaly and greasy patches and flakes. This can cause water loss, as skin is unable to maintain moisture.
Details 2
"At the time when the causal mutation for this disorder was discovered to be in the PNPLA1 gene in Golden Retrievers, this gene had not been implicated in any human cases of the same disorder nor in any other diseases. Having made the canine discovery, Grall et al. (2012) then sequenced the PNPLA1 gene in human families with affected individuals, and discovered "one missense and one nonsense mutation in the catalytic domain of human PNPLA1 in six individuals with ARCI from two families". This is an original way to discover clinically-important human mutations: to start by identifying what appear to be homologous disorders in spontaneous animal models, to identify the causal mutation in the animal model, and then use such knowledge to inform human medicine and also benefit veterinary medicine. (Thanks to Catherine André and Judith Fischer for their suggestions to FN in relation to this and other sections of this page; 27 January 2012)" [From OMIA]
Patents/ Licences
Patent: Antagene. (please note that patent and licensing laws and coverage vary by country)
Body/System/Process
Autoimmune
Inheritance
AR

Breed Specific Data

Anicom

Link to GTP
GTP
Breed
GTP Disease Name
Ichthyosis -A (Golden Retriever)
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

GenSol Diagnostics

Link to GTP
Breed
GTP Disease Name
Ichthyosis -A (Golden Retriever)
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

Paw Print Genetics

Link to GTP
Breed
GTP Disease Name
Ichthyosis -A (Golden Retriever)
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12
Nature of test
mutation test
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