Now let’s check out an arresting article about uncommon genetic mutations in humans! Insider Monkey has come with a great compilation again that is worth reading it! Some genetic mutations are more common than others. Given that they are so common, we often do not think of them as being the result of gene mutation. Did you know that blue eyes and color blindness are examples of genetic mutations? People who have blue eyes have a gene mutation which makes it impossible for melanin to be produced diluting the eyes to a blue color.
Now without a further ado let’s see what Insider Monkey has investigated for us. We have picked three uncommon genetic mutations in humans from their list.
The first one is Harlequin ichthyosis. Harlequin ichthyosis is an extremely rare genetic mutation that affects the skin. Infants who are born with the condition are covered with a hard and very thick layer of skin, that has deep cracks. Due to this, children experience dehydration and succumb to infections in the first weeks of their lives. The condition results from the mutation of the gene ABCA12 which is essential for making a protein in charge of normal development of skin cells. Hypertrichosis (Werewolf Syndrome) is the second one now. From the very name of the syndrome, you can guess in what way it affects those who are diagnosed with it. Werewolf syndrome ranks third on our list of uncommon genetic mutations in humans. It is characterized by excessive hair growth. The condition affects both, men and women. Depending on the type of hypertrichosis, hair can cover the whole body or be restricted to a certain area of the body. The exact cause is still unknown. Less than 100 cases of werewolf syndrome were documented worldwide, making it an extremely rare occurrence. At last, but not least we are mentioning Marfanoid – progeroid – lipodystrophy syndrome. The long name is confusing, yet if I say that Lizzie Velasquez became famous worldwide for having the condition and portraying her life battle, you will know what the name is about. This genetic condition is also referred to as MPL and MFLS, and it involves a number of symptoms. People diagnosed with the condition are usually very tall, with disproportionately long arms, legs, fingers, and toes. Furthermore, they have a severe lipodystrophy, which renders their body unable to produce fat. Since 2016, only 10 cases were recorded.