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Mucopolysaccharidosis (MPS) IIIA

Related Terms:

MPS IIIA, Sanfilippo Syndrome Type A, SGSH

Type: DNA
Sample Types: Cheek brushes/swabs, Fresh EDTA blood, Other
Sample Processing
Cost: $75.00
Species and Breeds:
Canine - Dachshund, Standard
Canine - Miniature Dachshund
Canine - New Zealand Huntaway

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

Clinical Signs:

Clinical signs become apparent at about 1.5 years of age in New Zealand Huntaway Dogs and at about 3 years of age in Dachshunds and Miniature Dachshunds. These clinical signs include pelvic limb ataxia (incoordination), hypermetric dysmetria (disturbance in the control in the range of muscular movement, specifically overreaching or excessive range of movement), frequent stumbling and falling, proprioceptive (perception) deficits, mild gait and progressive postural reaction deficits in the thoracic limbs, neurologic signs which worsened from 3–4 years of age, body sways while standing, tremor of the head, and unable to climb stairs. Observed more in New Zealand Huntaway Dogs than in the Dachshunds and Miniature Dachshunds: severe central nervous system degradation, progressive mental retardation, high stepping/prancing gait affecting the forelegs, difficulty jumping, loss of learned behavior. Dogs with this disease have a dramatically shortened life expectancy and are generally humanely euthanized within a month of diagnosis.

Life Expectancy:

Poor – generally humanely euthanized within a month of diagnosis.

Inheritence Mode:

Autosomal recessive

Pathology:

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

Mutation:

SGSH and NM_001003114.1:c.740_742delCCA (Dachshund, Miniature Dachshund) SGSH and NM_001003114.1:c.686_687insA (New Zealand Huntaway Dog)

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) IIIA 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) IIIA 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) IIIA and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.
References:

Aronovich EL, Carmichael KP, Morizono H, Koutlas IG, Deanching M, Hoganson G, Fischer A, Whitley CB. Canine heparan sulfate sulfamidase and the molecular pathology underlying Sanfilippo syndrome type A in Dachshunds. Genomics. 2000 Aug 15;68(1):80-4. doi: 10.1006/geno.2000.6275. PMID: 10950929. Fischer A, Carmichael KP, Munnell JF, Jhabvala P, Thompson JN, Matalon R, Jezyk PF, Wang P, Giger U. Sulfamidase deficiency in a family of Dachshunds: a canine model of mucopolysaccharidosis IIIA (Sanfilippo A). Pediatr Res. 1998 Jul;44(1):74-82. doi: 10.1203/00006450-199807000-00012. PMID: 9667374. Yogalingam G, Pollard T, Gliddon B, Jolly RD, Hopwood JJ. Identification of a mutation causing mucopolysaccharidosis type IIIA in New Zealand Huntaway dogs. Genomics. 2002 Feb;79(2):150-3. doi: 10.1006/geno.2002.6699. PMID: 11829484.