NEUROFIBROMATOSIS & Triplet Repeat Mutation – Fragile X Syndrome

Question 1

This disease is a genetic disorder that causes typically BENIGN tumors of the nerves and growths in other parts of the body. Also, this disease manifests itself at birth or during early childhood.

Answer 1

Neurofibromatosis

Question 2

What are the 2 major types of Neurofibromatosis?

Answer 2

Neurofibromatosis Type 1
Neurofibromatosis Type 2

Question 3

Neurofibromatosis Type 1 is caused by what gene?

Answer 3

Neurofibromin (Neurofibromin 1)

Question 4

What characterizes Neurofibromatosis Type 1?

Answer 4

• Multiple brown spots (cafe-au-lait)

Question 5

Neurofibromatosis type II is the result from the mutation of what gene?

Answer 5

neurofibromin 2, merlin

Question 6

What characterizes Neurofibromatosis type II?

Answer 6

benign tumors of the nerves

Question 7

This is more frequently diagnosed in adults aged 30 and older

Answer 7

Schwannomatosis

Question 8

This is characterized by moderate intellectual disability in affected males and mild intellectual disability in affected females.

Answer 8

Triplet Repeat Mutation – Fragile X Syndrome

Question 9

Triplet Repeat Mutation – Fragile X Syndrome is caused by a mutation in what gene?

Answer 9

FMR1

Question 10

FMR1 is a gene located on the X chromosome that produces a protein called ___________ needed for proper cell function.

Answer 10

FMRP

Question 11

The following symptoms below belongs to?
- large head, long face, prominent forehead and chin, protruding ears, loose joints and large testes
- flat feet, frequent ear infections, low muscle tone, a long narrow face, high-arched palate, dental problems, crossed eyes (strabismus) and heart problems including mitral valve prolapse

Answer 11

Triplet Repeat Mutation – Fragile X Syndrome