Reminder: Login to access new features and members-only content!

Register to be a member of our community. Its easy!

Register a new account

Already a member?

Log In here!

Donate

Did you find our content interesting or helpful? Help support the IPFD enhance health, well-being and welfare for dogs everywhere.

Jump to content
  •   Language
  • Sign Up

International Partnership for Dogs - Enhancing Dog Health, Well-Being, and Welfare - Join Us.

Ichthyosis, PNPLA1-related

Breed: Golden Retriever

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

Agrotis S.r.l.

GTP Name
Agrotis S.r.l.
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Anicom

GTP
GTP Name
Anicom
GTP Disease Name
Ichthyosis -A (Golden Retriever)
Gene Name
PNPLA1
Mutation
c.1451_1453delinsTACTACTA

Antagene

GTP
GTP Name
Antagene
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

BioBank AS

GTP Name
BioBank AS
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Certagen GmbH

GTP Name
Certagen GmbH
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

CMSCH

GTP
GTP Name
CMSCH
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

DNA My Dog

GTP Name
DNA My Dog
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Nature of test
mutation test
This test is outsourced to:
Orivet
FCI Number
111
GTP Breed
Golden Retriever

EVG Diagnostics

GTP Name
EVG Molecular Diagnostics
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Nature of test
mutation test
GTP- or Breed-Specific Publications
Nature Genetics 44, 140?147 (2012)

Genomia s.r.o

GTP Name
Genomia s.r.o
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
c.1451_1453delinsTACTACTA
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

Genoscoper Laboratories Oy

GTP Name
Genoscoper Laboratories Oy
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

GenSol Diagnostics

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

INNO

GTP
GTP Name
INNO
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Laboratorios Labocor S.L.

GTP Name
Laboratorios Labocor S.L.
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Laboklin Gmbh & Co. KG

GTP Name
Laboklin Gmbh & Co. KG
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

Orivet Genetic Pet Care

GTP Name
Orivet Genetic Pet Care
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 9
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

Paw Print Genetics

GTP Name
Paw Print Genetics
GTP Disease Name
Ichthyosis -A (Golden Retriever)
GTP Disease Synonym
ARCI, Autosomal Recessive Congenital Ichthyosis
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 10
Nature of test
mutation test
FCI Number
111
GTP Breed
Golden Retriever

PharmaDNA

GTP
GTP Name
PharmaDNA
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Independent Veterinary Laboratory POISK

GTP Name
Independent Veterinary Laboratory POISK
GTP Disease Name
Ichthyosis -A (Golden Retriever)
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Progènes-ADN

GTP Name
Progenes ADN
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

VHL Genetics

GTP Name
VHL Genetics
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

Zoolyx

GTP
GTP Name
Zoolyx
Gene Name
PNPLA1
Mutation
3-bp deletion followed by an 8-bp insertion, exon 8; c.1451_1453delinsTACTACTA

The Kennel Club

GTP Name
The Kennel Club
GTP Disease Name
Ichthyosis -A (Golden Retriever)
Gene Name
PNPLA1
Mutation
c.1451_1453delinsTACTACTA
This test is outsourced to:
Weatherby's
×
×
  • Create New...

Important Information

By using this site, you agree to our Terms of Use.