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.

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