6. Definition
• Bloom Syndrome is an inherited disorder
that is characterized by short stature, sun
sensitive skin changes, & increased chances
of cancer and other serious health
problems.Cells from a person with Bloom
syndrome exhibit a striking genomic
instability that includes excessive
homologous recombination.
9. What are some signs of Bloom
Syndrome?
• People with Bloom Syndrome have low birth
weight and length.
• They remain much skinner and smaller than their
other family members.
• They often grow to be less than 5 feet tall.
• Reddening of the skin.
• Develop dilated blood vessels.
12. Common or not?
• This condition is inherited in an autosomal
recessive pattern, which means both copies of the
gene in each cell have mutations. The parents of an
individual with an autosomal recessive condition
each carry one copy of the mutated gene, but they
typically do not show signs and symptoms of the
condition.
• Bloom Syndrome’s overall affected percentage is
unknown but 1 in every 50,000 that are affected
have jewish backgrounds. If both parents carry the
gene there is a 1 in 4 chance the child will have
Bloom Syndrome.
17. Is It Treatable?
• There is no treatment for the underlying
cause of Bloom’s syndrome. Preventative
measures such as increased surveillance for
cancer and decreased exposure to sunlight
and X-rays should be taken. Bone marrow
transplant is a possibility.
18.
19. • Mutations in the BLM gene cause Bloom
syndrome.BLM gene mutations prevent the BLM
protein from performing its function in maintaining
genomic stability. As a result of the altered BLM
protein activity, the frequency of sister chromatid
exchange increases about 10-fold, which is a hallmark
of Bloom syndrome. Increased sister chromatid
exchange is an indicator of chromosome instability. It
is associated with gaps and breaks in the genetic
material that impair normal cell activities and cause
the health problems associated with this condition.
Altered BLM protein activity may also lead to an
increase in cell death, resulting in slow growth in
affected individuals.
20. What genes are related?
• Mutations in the BLM gene cause Bloom
syndrome.BLM gene mutations prevent the BLM
protein from performing its function in maintaining
genomic stability. As a result of the altered BLM
protein activity, the frequency of sister chromatid
exchange increases about 10-fold, which is a hallmark
of Bloom syndrome. Increased sister chromatid
exchange is an indicator of chromosome instability. It
is associated with gaps and breaks in the genetic
material that impair normal cell activities and cause
the health problems associated with this condition.
Altered BLM protein activity may also lead to an
increase in cell death, resulting in slow growth in
affected individuals.
