Neurofibromatosis Type 1

GENETIC PROBLEM

• Neurofibromtosis type 1 can either be genetically inherited or can result
• from spontaneous gene mutation.
• Both of these causes results in a mutation on chromosome 17,
• resulting in type 1 of Neurofibromatosis.

CAUSES

• Type 1 is the more common form and caused by a defect in the gene, NF1
• in the chromosome 17.
• Neurofibromin, the gene product, is a ubiquitous nervous system protein
• And is believed to act as a tumor suppressor.

SYMPTOMS

• Six or more light brown spots on the skin (called “café-au-lait” spots),
• measuring over 5 millimeters in diameter in children
• Two or more neurofibromas, or one plexiform neurofibroma
• Freckles in the armpit or groin;
• Two or more growths on the iris (known as Lisch nodules)

SYMPTOMS

• Tumors on your optic nerve (optic nerve glioma)
• Abnormal development might occur on the spine, the temple, or the tibia

POPULATION AFFECTED

• 1 out of 4000 people worldwide is affected.
• It occur in all genders, races, and ethnic groups.
• It does not discriminate, it affects all.

HOW IT'S INHERITED

• Type 1 of Neurofibromatosis is autosomal dominant.
• In about half of the cases the mutated gene is inherited from a parent.
• The other half have no family history of the disease.
• In this instance it occurs early on in life through spontaneous combustion.

PEDIGREE

CURE

• There is no cure to the disease.
• There are surgeries to get rid of the tumors that come with the disease.
• However, there is no medicine or pill that can get rid of or kill the disease.

PUNNETT SQUARE