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Mucopolysaccharidosis (MPS) VI

Related Terms:

ARSB, Arylsulfatase B Deficiency, Maroteaux–Lamy Syndrome, MPS VI

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other
Sample Processing
Cost: $75.00
Species and Breeds:
Canine - Miniature Pinscher
Canine - Miniature Poodle
Canine - Miniature Schnauzer
Canine - Toy Poodle
Feline - Siamese

We do not provide kits. Please collect the sample following the sample collection and shipping instructions before ordering a test.

Clinical Signs:

Dogs: Clinical signs include facial dysmorphia, diffuse corneal clouding, pectus excavatum (sunken chest), peripheral blood leukocyte granulation, epiphyseal dysplasia, osteoporosis, hypoplasia (organ underdevelopment), aplasia (organ dysfunction), abnormal ossification (bone formation), dwarfism, degeneration of joints, spondylosis (arthritis of the spine), coxofemoral (hip and thigh) and patellar (kneecap) subluxation (partial dislocation), right ventricular heart enlargement, and cardiac valve thickening. Dogs with this disease have a shortened life expectancy and are often euthanized by three years of age. Cats: Clinical signs include facial dysmorphia, diffuse corneal clouding, pectus excavatum (sunken chest), peripheral blood leukocyte granulation, epiphyseal dysplasia, abnormal ossification (bone formation), dwarfism, degeneration of joints, spondylosis (arthritis of the spine), and coxofemoral (hip and thigh) and patellar (kneecap) subluxation (partial dislocation).

Life Expectancy:

3 years (dogs) 2–4 years (cats)

Inheritence Mode:

Autosomal recessive

Pathology:

Lysosomal storage in multiple organs along with degermation and inflammation of affected tissues.

Mutation:

ARSB and NM_001048133.1:c.910G>A (Miniature Pinscher) ARSB and NM_001048133.1:c.103_124del (Miniature Poodle, Toy Poodle) ARSB and NM_001048133.1:c.-24_32del (Miniature Schnauzer) ARSB and c.1427T>C (Domestic Short Hair, Siamese)

Explanation of Results
GenoType PhenoType Interpretation

2-2 (Homozygous Disease Variant)

Unhealthy (Affected)

Homozygous Affecteds (2-2) are expected to develop signs consistent with Mucopolysaccharidosis (MPS) VI 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 Mucopolysaccharidosis (MPS) VI 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 Mucopolysaccharidosis (MPS) VI and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
References:

Raj K, Berman-Booty L, Foureman P, Giger U. ARSB gene variants causing Mucopolysaccharidosis VI in Miniature Pinscher and Miniature Schnauzer dogs. Anim Genet. 2020 Dec;51(6):982-986. doi: 10.1111/age.13005. Epub 2020 Sep 28. PMID: 32985704. Jolly RD, Hopwood JJ, Marshall NR, Jenkins KS, Thompson DJ, Dittmer KE, Thompson JC, Fedele AO, Raj K, Giger U. Mucopolysaccharidosis type VI in a Miniature Poodle-type dog caused by a deletion in the arylsulphatase B gene. N Z Vet J. 2012 May;60(3):183-8. doi: 10.1080/00480169.2011.642791. Epub 2012 Feb 14. PMID: 22329490; PMCID: PMC3401909. Yogalingam G, Litjens T, Bielicki J, Crawley AC, Muller V, Anson DS, Hopwood JJ. Feline mucopolysaccharidosis type VI. Characterization of recombinant N-acetylgalactosamine 4-sulfatase and identification of a mutation causing the disease. J Biol Chem. 1996 Nov 1;271(44):27259-65. doi: 10.1074/jbc.271.44.27259. PMID: 8910299.