Unusual genetic mutations in human

Unusual genetic mutations are the rare disorder which are found in human

1. Unusual Genetic Mutations in Humans

2. PROGERIA Severe genetic disorder that causes accelerated aging. Mostly children die at age 13. Death is typically caused by a heart attack or stroke . It affects as few as  one per eight million live births. The disease is caused by a mutation in the LMNA gene ( limb-girdle muscular dystrophy ) , a gene that provides support to the nucleus .

3. Uner Tan Syndrome People who suffer from it walk on all fours . These individuals walk with a quadrupedal locomotion , use primitive speech , and have a congenital brain impairment.

4. Hypertrichosis It is also called “ werewolf syndrome ” and it affects as few as one in a billion people only 50 cases have been documented since the Middle Ages. People with hypertrichosis have  excessive hair on the shoulders, face, and ears .  Studies have implicated it to a rearrangement of chromosome 8. It happens due to a disruption of the “crosstalk” between the epidermis and the dermis as hair follicles form in the 3-month fetus at the eyebrows and down to the toes.

5. Epidermodysplasia Verruciformis Epidermodysplasia verruciformis is an extremely rare disorder that makes people prone to  widespread human papillomavirus (HPV) infection . This infection causes scaly macules and papules to grow on the hands, feet, and even face.  These skin “eruptions” appear as wart-like lesions and even wood-like and horn-like growths with reddish-brown pigmented plaques The skin tumors start to emerge in people between the age of 20 and 40, and the growths tend to appear on areas exposed to the sun. These warts can removed by surgery.

6. Severe Combined Immunodeficiency Disorder (SCID) Also known as the Boy in the Bubble Disease, it’s a disorder in which  individuals are born without an effective immune system . a boy name Vetter lived in plastic bag for 13 years, to protect him from exposure to life threatening pathogen but he died in 1984 due to an unsuccessful bone marrow transplant This disorder is caused by a number of genes, including those that cause defects in both T and B cell responses SCID is also thought to arise due to the lack of adenosine deaminase (ADA). SCID can be treated by Gene Therapy.

7. Lesch–Nyhan Syndrome Genetic disorder that affects one in every 380,000 births, nearly all of them boys. An overproduction of uric acid   Person suffering from this disease release excess uric acid through their blood which builds up under the skin causing  gouty arthritis . It can also cause kidney and bladder stones. The disease also affects neurological function and behavior.

8.   Ectrodactyly Formerly known as “ lobster claw hand”, individuals with this disorder have a cleft where the middle finger or toe should be. Person suffering from this disease have split hands and foot It is a rare limb deformities for example in some cases only the thumb and one finger It is due to deletions , translocations , and inversions in chromosome 7 .

9. References https://io9.gizmodo.com/10-unusual-genetic-mutations-in-humans-470843733