Mucolipidosis II

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Related Terms: GNPTAB, I-cell Disease, Inclusion Cell Disease, ML II

Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

This type of test request requires a pre approval. Please email PennGen@vet.upenn.edu to get pre approval before taking any samples. If you don't get a pre approval your request will be cancelled.

Within the first weeks of life

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Sample Processing

Cost: $75.00

Species and Breeds
Feline - Domestic Short Hair

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

The disease is characterized by stunted growth, failure to thrive, facial dysmorphia, blindness, organomegaly, and heart disease.

6 months at most

Autosomal recessive

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

GNPTAB and XM_003989173.5:c.2644C>T

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Mucolipidosis II 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 Mucolipidosis II 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 Mucolipidosis II and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Wang P, Mazrier H, Caverly Rae J, Raj K, Giger U. A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease). BMC Vet Res. 2018 Dec 27;14(1):416. doi: 10.1186/s12917-018-1728-1. PMID: 30591066; PMCID: PMC6307278. Hubler M, Haskins ME, Arnold S, Kaser-Hotz B, Bosshard NU, Briner J, Spycher MA, Gitzelmann R, Sommerlade HJ, von Figura K. Mucolipidosis type II in a domestic shorthair cat. J Small Anim Pract. 1996 Sep;37(9):435-41. doi: 10.1111/j.1748-5827.1996.tb02444.x. PMID: 8887204. Bosshard NU, Hubler M, Arnold S, Briner J, Spycher MA, Sommerlade HJ, von Figura K, Gitzelmann R. Spontaneous mucolipidosis in a cat: an animal model of human I-cell disease. Vet Pathol. 1996 Jan;33(1):1-13. doi: 10.1177/030098589603300101. PMID: 8826001.