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Unusual genetic mutations in human

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Nosheen Afzal
Nosheen Afzal

This document summarizes several rare genetic disorders: Progeria causes rapid aging and death by age 13; Uner Tan Syndrome causes quadrupedal walking; Hypertrichosis causes excessive hair growth known as "werewolf syndrome"; Epidermodysplasia Verruciformis causes wart-like skin growths from HPV; Severe Combined Immunodeficiency (SCID) leaves those affected without an immune system; Lesch-Nyhan Syndrome causes excess uric acid in blood and neurological issues; and Ectrodactyly causes cleft hands and feet. The disorders are caused by mutations in genes like LMNA and disruptions of chromosomes 7 and 8.

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Unusual Genetic Mutations in Humans
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.
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.
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.
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.
Severe Combined Immunodeficiency Disorder (SCID) Also known as the Boy in the Bubble Disease, its 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.
LeschNyhan 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.
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.
Unusual genetic mutations in human
References https://io9.gizmodo.com/10-unusual-genetic- mutations-in-humans-470843733

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Unusual genetic mutations in human

  • 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, its 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. LeschNyhan 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.

Editor's Notes

  1. Gout is a kind of arthritis. It can cause an attack of sudden burning pain, stiffness, and swelling in a joint, usually a big toe. These attacks can happen over and over unless gout is treated.