10 Uncommon Genetic Mutations in Humans

The human body is a miracle of nature, and in this article, Insider Monkey brings you the list of 10 uncommon genetic mutations in humans.

Genetic mutation is the alteration of DNA pattern whereby only a single block of DNA can be altered or a large part of the chromosome including multiple genes. We can talk about hereditary and acquired mutations. Hereditary genetic mutations are inherited and are present in every single cell in your body. Acquired genetic mutations occur at some point in a person’s life and, unlike is the case with hereditary mutations, are not present in every cell in your body, but only some. While there are some pretty cool genetic mutations, such as supervision, there are also genetic mutations which have a rather harmful impact on your body and health, such as cystic fibrosis. In this article we provide the list of the most uncommon genetic mutations in humans, leaving you with a sense of wonder of what a human body is capable of doing. Researching this article was so much fun because I got to learn a lot and I am sure you will too if you continue reading.

This is not the first time we are writing about gene alteration. We have already published an article on fascinating examples of genetically modified animals, where we provided some interesting examples of how genes in animals were manipulated to create improved versions. Super salmon, silk spinning goats, and micro pigs have made the top three on our list. While I do not support the idea of the genetic modification of animals, I love to read and research on genetic mutations in animals. Winged cats, transparent goldfish, and blue lobsters are my favorites.

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. Colour blindness, on the other hand, occurs when your retina fails to respond to variations in wavelengths of light, making one unable to distinguish between different colors. Another genetic mutation that is quite common is incomplete heterochromia, where a person’s eyes are different colors. This one is also common in animals. Chances are you were left in awe after seeing that husky with one blue and the other brown eye. Apart from being common human mutations, blue eyes and incomplete heterochromia are what some would consider beautiful human mutations. I personally find people who have eyes of different color unique and alluring.

Apart from making people attractive, some genetic mutations can, in fact, benefit human health. Malaria resistance and increased bone density are clear examples that there are beneficial mutations in humans. A population in Burkina Faso has developed a special variant of haemoglobin, which makes them less likely to get malaria. Statistics show that around 150 in 100,000 people in this country die of malaria every year. Given the context, this is undoubtedly a mutation one can only pray for. While very unusual, increased bone density mutation is possible. This happens as the result of the increased function of LRP5, a lipoprotein receptor. A person who develops this mutation has stronger bones than an average person and is unlikely to develop osteoporosis.

Did you know that redheads have higher pain tolerance? They have an MC1R gene variant, which apart from restricting melanin production, and which also affects certain areas of the brain, increasing pain tolerance. It is probably because of this that gingers often remain indifferent to being told that they have no soul. Who needs soul when you have got a superpower?! A gene mutation any girl bothered with her appearance would wish for is the one resulting in distichiasis. People who have this gene mutation have double eyelashes. Yes, you heard it well. Two rows of eyelashes sprout from each lid, saving you money on fake lashes and mascaras. Elizabeth Taylor had this mutation. These are cool genetic disorders people would hardly complain about.

In the following part of the article, we provide you the list of 10 uncommon genetic mutations in humans. As you will see, most of the items on the list are the examples of harmful mutations, some more harmful than others. To create the list I referred to the data provided by the National Human Genome Research Institute and Genetic and Rare Diseases Information Center (GARD). To get some additional insight, I also referred to the Genetics Home Reference.

10. Turner syndrome

Turner syndrome affects only girls and is usually diagnosed by the age of 5. It is the result of the genetic mutation of X chromosome. Typically, females have two X chromosomes. However, females who have Turner syndrome either miss one of the sex chromosomes or one of the chromosomes is altered. Most of the girls who have the condition are unable to undergo puberty and are unable to conceive.

9. Cyclopia syndrome

Chances are you have probably heard of this syndrome. The term got its name from a one-eyed giant in Greek mythology, Cyclops. It is a developmental disorder whereby the embryo fails to subdivide properly, resulting in facial disfigurement. Children born with this condition have one eye where the root of nose lies. The condition occurs in 1 out of 16.000 live births.

8. Treacher Collins syndrome

Up next on our list of uncommon genetic mutations in humans we have this syndrome which occurs in 1 in 50.000 people. The condition affects bone and facial tissues development, with symptoms varying depending on individual cases. People with the condition have underdeveloped cheekbones, jaw, and chin. As studies show, Treacher Collins syndrome is caused by the genetic mutations of genes which are essential for the production of proteins playing a role in the early development of facial bones and tissues.

7. Diprosopus

The condition is also known as craniofacial duplication and is extremely rare. It affects humans and animals alike. Facial features of persons with diprosopus are partially duplicated, while the rest of the body is unaltered. Researchers have proposed several explanations as to why the condition is developed. One of the explanations is that the protein SHH, which is crucial for craniofacial patterning during the stages of development, is altered.

6. Proteus syndrome

Proteus syndrome is characterized by the overgrowth of skeletal and skin tissue and organs. The growth is disproportional, affecting the left and the right side of the body differently. In certain cases, people with this genetic mutation have intellectual disability, seizures or vision loss. The syndrome affects 1 in a million people worldwide, which is why it is ranked 6th on our list of 10 uncommon genetic mutations in humans.

5. Fibrodysplasia ossificans progressiva (FOP)

Approximately 1 in 2 million people worldwide are diagnosed with FOP. People who have this condition suffer as muscle and connective tissue become ossified, that is, turned into bone. Any injury to the muscles can result in ossification of the area. Over the time, the condition affects person’s mobility, ability to eat and speak, and in certain cases, causes breathing difficulties.

4. 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.

3. Hypertrichosis (Werewolf Syndrome)

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.

2. 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.

1. Hutchinson-Gilford progeria syndrome

If you are a social media addict, like many of us are nowadays, you have probably heard of this syndrome because you have read the story of Adalia Rose. Adalia is 1 in 4 million children worldwide who was diagnosed with progeria syndrome. Given that it is so rare, progeria occupies the 1st place on our list of 10 uncommon genetic mutations in humans. Children who have the condition have an appearance of rapid aging. They also develop hair loss, joint abnormalities and a loss of fat under the skin.

This was Insider Monkey’s list of 10 uncommon genetic mutations in humans.