Mucolipidosis IV

Mucolipidosis IV is caused by mutations in the mucolipin-1 (MCOLN1) gene that disrupt proper transport of certain fats and sugars within cells. The disease is characterized by mental and physical developmental delay, with language and physical capabilities never progressing much past those of a typical 12- to 15-month-old. There are also effects on the eyes, including corneal clouding and retinal degeneration.
A person must inherit a mutated copy of MCOLN1 from each parent in order to have mucolipidosis IV. If two parents are carriers of a mutation, there is a 25% chance their child will be born with the disorder. There is a 50% chance that their child will be an unaffected carrier for mucolipidosis IV. Each unaffected sibling of an affected child has a two in three chance of being a carrier.
More than 16 mutations in the MCOLN1 gene have been documented so far. In people with Ashkenazi Jewish ancestry, most cases of mucolipidosis are due to two specific mutations. 23andMe reports data for the more common mutation of the two. This mutation — IVS3-2A>G — is found in 70-80% of cases of mucolipidosis IV in Ashkenazi Jews. Approximately one out of every 103 Ashkenazi Jews carries a mutation that causes mucolipidosis IV. About one out of every 137 specifically carries the IVS3-2A>G mutation.
1. One of the advantages of genetic testing, is knowing what to expect. What diseases will affect you and how they will affect. It gives you a choice of not allowing your off-spring a chance to inherit a certain condition. You can center your future around your DNA,

2. If I could test for free, I would not at this point in my life. I will never give birth to a child again. Besides the damage is already done. I have four sons who might have already receive copies of my bad DNA.