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Ichthyosis, PNPLA1-related

Breed: Goldendoodle

Generic Phene Data

Breeds

Relevance Rating: The test is unknown, there is no evidence (i.e. research) available, or it has not been evaluated yet. These tests may or may not be meaningful for these breeds

General

Disease Name
Ichthyosis, PNPLA1-related
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Mutation 2
c.1451_1453delinsTACTACTA
Test Type
Genetic Disease/Disorder
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]

Breed Specific Data

Paw Print Genetics

GTP Name
Paw Print Genetics
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
FCI Number
-43

VHL Genetics

GTP Name
VHL Genetics
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

GenSol Diagnostics

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

Certagen GmbH

GTP Name
Certagen GmbH
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

Anicom

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

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

BioBank AS

GTP Name
BioBank AS
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

CMSCH

GTP
GTP Name
CMSCH
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

INNO

GTP
GTP Name
INNO
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

Progènes-ADN

GTP Name
Progenes ADN
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

Zoolyx

GTP
GTP Name
Zoolyx
Breed
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 12

Independent Veterinary Laboratory POISK

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