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Centronuclear Myopathy

Breed: Labrador Retriever

Generic Phene Data

Breeds
Relevance Rating: There is some evidence or research available for these 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
GTPs
Agrotis S.r.l.
Antagene
BioBank AS
Certagen GmbH
CMSCH
DNA My Dog
Embark
EVG Diagnostics
Genomia s.r.o
GenSol Diagnostics
INNO
Laboklin Gmbh & Co. KG
Laboratorios Labocor S.L.
Orivet Genetic Pet Care
Paw Print Genetics
PharmaDNA
Progènes-ADN
The Kennel Club
Veterinary Genetics Laboratory
VetGen LLC
VHL Genetics
Wisdom Panel - Kinship
Zoolyx

General

Disease Name
Centronuclear Myopathy
OMIA
1374
Gene Name
PTPLA
Gene Name 2
HACD1
Mutation
c.191_192ins236b
Test Type
Genetic Disease/Disorder
Synonyms/Related Terms
Labrador myopathy, HMLR
Details
Centronuclear myopathy (CNM) is a hereditary myopathy. This condition is also known as: type II muscle fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy. The disease affects males and females equally, and symptoms include loss of muscle tone and control, exercise intolerance, weakness, irregular gait, and loss of patellar reflex. Age of onset is 2-5 months. The carrier and affected population world-wide for the labrador retriever breed is considered to be moderately high (10-16% estimates) meaning that it is recommended that owners and breeders test carefully, and include some carriers + clear tested dogs in their breeding plans to maintain genetic diversity and a balance of other desireable traits.
Details 2
Centronuclear myopathy (CNM) is a hereditary myopathy resulting from a mutation in the protein tyrosine phosphatase-like member A gene (PTPLA). This condition is also known as: type II muscle fiber deficiency, autosomal recessive muscular dystrophy and hereditary myopathy. The disease affects males and females equally, and symptoms include loss of muscle tone and control, exercise intolerance, weakness, irregular gait, and loss of patellar reflex. Age of onset is 2-5 months.
Published
Pele, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Hum Mol Genet 14:1417-27, 2005. Pubmed reference: 15829503. Doi: 10.1093/hmg/ddi151.
Published 2
Maurer, M., Mary, J., Guillaud, L., Fender, M., Pele, M., Bilzer, T., Olby, N., Penderis, J., Shelton, G.D., Panthier, J.J., Thibaud, J.L., Barthelemy, I., Aubin-Houzelstein, G., Blot, S., Hitte, C., Tiret, L.: Centronuclear myopathy in Labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide. PLoS One 7:e46408, 2012. Pubmed reference: 23071563. Doi: 10.1371/journal.pone.0046408.
Body/System/Process
Muscular
Inheritance
AR

Breed Specific Info

Researched Breeds
Labrador Retriever

HSP Test-Specific Data

Agrotis S.r.l.

GTP
GTP Name
Agrotis S.r.l.
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Antagene

GTP
GTP Name
Antagene
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
122
GTP Breed
Labrador Retriever

BioBank AS

GTP
GTP Name
BioBank AS
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Certagen GmbH

GTP
GTP Name
Certagen GmbH
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

CMSCH

GTP
GTP Name
CMSCH
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

DNA My Dog

GTP
GTP Name
DNA My Dog
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
This test is outsourced to:
Orivet
FCI Number
122
GTP Breed
Labrador Retriever

Embark

GTP
GTP Name
Embark
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
122
GTP Breed
Labrador Retriever

EVG Diagnostics

GTP
GTP Name
EVG Molecular Diagnostics
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Genomia s.r.o

GTP
GTP Name
Genomia s.r.o
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.203_204ins[N[236];CACACAAAGGTTT]
Mutation Comment
g.19371988_19371989ins[N[236];CACACAAAGGTTT]
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever

GenSol Diagnostics

GTP
GTP Name
GenSol Diagnostics
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex

INNO

GTP
GTP Name
INNO
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Laboklin Gmbh & Co. KG

GTP
GTP Name
Laboklin Gmbh & Co. KG
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
122
GTP Breed
Labrador Retriever

Laboratorios Labocor S.L.

GTP
GTP Name
Laboratorios Labocor S.L.
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Orivet Genetic Pet Care

GTP
GTP Name
Orivet Genetic Pet Care
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
122
GTP Breed
Labrador Retriever

Paw Print Genetics

GTP
GTP Name
Paw Print Genetics
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
FCI Number
122
GTP Breed
Labrador Retriever

PharmaDNA

GTP
GTP Name
PharmaDNA
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Progènes-ADN

GTP
GTP Name
Progenes ADN
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

The Kennel Club

GTP
GTP Name
The Kennel Club
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
This test is outsourced to:
Weatherby's

Veterinary Genetics Laboratory

GTP
GTP Name
Veterinary Genetics Laboratory
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel?? M, L. Tiret, JL Kessler, S Blot, JJ Panthier. 2005. SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs. Human Molecular Genetics 14(11):1417-1427.
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
122
GTP Breed
Labrador Retriever

VetGen LLC

GTP
GTP Name
VetGen LLC
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

VHL Genetics

GTP
GTP Name
VHL Genetics
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b

Wisdom Panel - Kinship

GTP
GTP Name
Wisdom Panel - Kinship
Breed
OMIA
GTP Disease Name
Labrador myopathy, HMLR
Gene Name
PTPLA
Mutation
c.191_192ins236b
Nature of test
mutation test
GTP- or Breed-Specific Publications
Pel??, M., Tiret, L., Kessler, J.L., Blot, S., Panthier, J.J.: SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopa
Application in the Breed
Carriers may be bred to normal animals (N/cnm x N/N) . Offspring should be tested before breeding . No breeding of two carriers (N/cnm x N/cnm) nor of affected animals (cnm/cnm). Muscle wasting, weakness, irregular gait, and loss of patellar reflex
Inheritance
AR
FCI Number
122
GTP Breed
Labrador Retriever

Zoolyx

GTP
GTP Name
Zoolyx
Breed
OMIA
Gene Name
PTPLA
Mutation
c.191_192ins236b
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