More You Know: Genetic Mutations

Don’t ask me why, but I looked up genetic mutations.  Let’s start with the more common ones and end with the rare genetic mutations.  I think most of us can agree chin dimples rank pretty low compared to the more rare and destructive mutations.  Enjoy reading.

Common Genetic Mutations

  • Baldness is more common in men but women do have it too.  This comes from one or both parents.
  • More men are colorblind than women.
  • A chin dimple is determined by a dominant gene.
  • The HERC2 gene is responsible for blue eyes.
  • Red hair gene especially common in Scotland and Wales.
  • Asian flush is the ALDH2 gene which prevents alcohol from being fully digested.
  • Half of alcoholism risk seems to be hereditary.
  • Bad acne can be passed down from parents.
  • Fraternal twins often repeat itself in a family line.
  • Heart disease, diabetes, stroke or high blood pressure can be developed in children if parents have any of these health conditions.

More Common Genetic Mutations (the more serious ones)

  • Cystic Fibrosis that affects mostly Caucasians and both parents have to be carriers. 
  • Tay-Sachs is because of a missing enzyme called Hex-A and causes early death in children and there is no treatment for it.
  • Jackson-Weiss Syndrome is the premature fusion of skull bones, which leads to a deformity of the head and face.  It is caused by a mutation in the FGFR2 gene.
  • Neurofibromatosis causes tumors to grow on nerves.
  • Thalassemias thalassemias results in anemia with fatigue and shortness of breath.  Infections are common as well.
  • Fragile X syndrome causes mental disabilities such as cognitive impairment and learning disabilities
  • Huntington’s disease cause degeneration of the the brain and central nervous system nerve cells including difficulty walking and loss of cognitive functions.
  • Marfan Syndrome is a disorder of the connective tissues.  People tend to have long and thin arms and legs.  Spinal curvature is another problem.

Rare Genetic Mutations (the more serious ones)

  • Lesch–Nyhan Syndrome affects mainly boys.  It can cause gouty arthritis, kidney, and bladder stones. It also affects neurological function and behavior.
  • Anencephaly is a neural tube disorder that causes degeneration of the nervous tissues.  Babies are usually stillborn or die within a few weeks.
  • Trimethylaminuria is the break down of trimethylamine so the odors are severe and occurs more in women.
  • Ectrodactyly is a condition with split hands and feet.when one or more missing digits exists on the foot or hand.
  • Epidermodysplasia Verruciformis is a recessive skin disorder where lesions grow on hands, feet, and face.
  • Polymelia are born with extra lower limbs and usually incompletely formed.
  • Hypertrichosis is excessive hair growth all over the body.
  • Progeria is rapid aging in children.  They have have small noses and chins with large ears.
  • Cyclopia is when someone is born with one central eye or two undivided eyes. Most infants with are aborted, stillborn, or die soon after birth.
  • Polycephaly is conjoined twins sharing major organs with two heads.
  • Proteus is an overgrowth condition with benign tumors and lesions.  They have long faces and wide nostrils.  The mutation is on the ATK1 gene that controls cell growth, division, and death.
  • Severe Combined Immunodeficiency Disorder is where the baby can’t fight off germs and life expectancy is short.
  • Cowden Syndrome is a multi-system disorder with benign over growths and increased breast, thyroid, uterine, and other cancers.  It also includes lesions called trichilemmomas.
  • Lhermitte–Duclos disease is a slow growing tumor of the cerebellum and may have multiple growths on skin.  People often have mutations in enzymes related to cell growth. It usually begins in the third and fourth decades of life.


3 Comments on “More You Know: Genetic Mutations

  1. My best to you and these I am not familiar with. I will have to look them up and add them soon. Thanks for the info.


  2. And you can add Cowden Syndrome and Lhermitte-duclos Disease to your list, too. 2 genetic mutation syndromes in which I have both!


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