Mucolipidosis type IV is an inherited lysosomal storage disorder characterized by severe developmental delays and progressive vision problems. It is caused by low levels of the mucolipin-1 protein, which appears to be essential for the development and maintenance of the brain and retina.
Mucolipidosis type IV is a rare disorder that is estimated to occur in 1 in 40,000 people. However, it is more common in people of Ashkenazi Jewish descent, as around 70% of affected individuals are of this ethnicity.
Take this test to find out if you are a genetic carrier for mucolipidosis type IV and are at risk of passing a variant to your children.
Mucolipidosis type IV is caused by variants in the MCOLN1 gene. This gene provides instructions for the mucolipin-1 protein. Mucolipin-1 is found in the membranes of lysosomes and endosomes, compartments within the cell that digest and recycle material. Affected individuals have impaired mucolipin-1 protein function, leading to the range of symptoms associated with mucolipidosis type IV.
Mucolipidosis type IV is an autosomal recessive disorder, meaning that an individual must inherit two defective copies of the MCOLN1 gene for symptoms to occur.
This test detects a genetic variant in the MCOLN1 gene which occurs in approximately 77% of carriers of Ashkenazi Jewish heritage.
- rs104886461 (IVS3-2A>G)
Understanding your carrier status for this variant will help you understand the risk of passing it to your children.
- Intellectual disabilities
- Very limited speech ability
- Difficulty chewing and swallowing
- Issues controlling hand movements
- Weak muscle tone leading to abnormal muscle stiffness
- Diminishing vision due to retinal degeneration
- Retinal pigment changes
- Renal failure (third decade of life)
- Iron deficiency
- Impaired production of stomach acid (achlorhydria)
How It Works
Step 1: Sign up for a free DNA Access account.
Step 2: Upload your DNA markers to DNA Access.
Step 3: Log in to your account to access your results when they are ready.