Noonan Syndrome

Nate Young and Paul Lowrie

What is Noonan Syndrome?

Noonan Syndrome is a syndrome that alters many parts of the body due to genetic mutations. Jacqueline Anne Noonan, an American pediatrician, discovered the syndrome in 1968 and it was named after her.
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Molecular Components

What are the Inheritance Patterns of Noonan Syndrome?

Inheritance usually involves an autosomal dominant pattern with direct vertical transmission of the syndrome. Affected individuals have a 50% chance of passing the disease-causing mutation to their offspring. The mutation occurs in non-sex chromosomes, and the number of chromosomes stays the same. Only one parent is required to pass the disease and he or she would be carrying the altered autosomal dominant gene. There have been four known genes associated with Noonan Syndrome and they are PTPN11, SOS1, RADF1, and KRAS. Most cases of noonan syndrome occur when there is a mutation in the PTPN11 gene, and a majority of these are missense mutations which means they have a chance to affect the person.
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Biochemical Components

What Proteins are affected by the Mutation?

Noonan Syndrome is caused by a mutation in PTPN11 gene. PTPN11 is a gene that has information for making the protein SHP-2, or tyrosine phosphatase. This protein mainly regulates the growth and division of cells, cell movement, and the death of cells, particularly self-destruction. When PTPN11 is mutated, none of these functions and can perform normally and a person may experience the symptoms of noonan syndrome. However, 50% of these mutations are missense mutations in the PTPN11 gene so many people with Noonan syndrome don't have as defined symptoms as other cases.

Organismal Components

What are the symptoms? How are they treated?

There can be many possible symptoms. Some include...abnormal facial characteristics, short stature, learning disabilities, and various physical issues like heart defects, odd chests, short necks, and eye and skin conditions

The treatable symptoms are treated the same as if any random person had them. Short stature can be treated with a hormone.

What are some statistics and facts about Noonan Syndrome?

  • About 1 in 1,000-2,500 people have it
  • 50%-70% have short stature
  • 85% of kids will develop heart problem, 25% will have a speaking delay
  • 33% of kids have a learning disability, 50% will develop an eye condition
  • Although boys are affected by Noonan Syndrome twice as much, someone from any gender can get the disorder.
  • The facial features of a person with Noonan Syndrome change as they get older.
An Overview Of Noonan Syndrome By Dr. Bruce Gelb

Works Consulted



"Learning about Noonan Syndrome." National Human Research Human Institute. Web. 3 Apr. 2016. <https://www.genome.gov/25521674#al-4>.

"19 Notable Noonan Syndrome Statistics." HRF. Web. 3 Apr. 2016.

<http://healthresearchfunding.org/19-notable-noonan-syndrome-statistics/>.

"Noonan Syndrome." Genetics Home Reference. Web. 3 Apr. 2016. <https://ghr.nlm.nih.gov>.

"Noonan Syndrome." Hereditary Ocular Disease. Web. 3 Apr. 2016. <http://disorders.eyes.arizona.edu/>.

"Noonan Syndrome." Mayo Clinic. Web. 3 Apr. 2016. <http://www.mayoclinic.org/diseases-conditions/noonan-syndrome/basics/definition/con-20028908>.

Fragale, A., and M. Tartaglia. "Noonan Syndrome-associated SHP2/PTPN11 Mutants Cause EGF-dependent Prolonged GAB1 Binding and Sustained ERK2/MAPK1 Activation." PubMed.gov. Web. 4 Apr. 2016. <http://www.ncbi.nlm.nih.gov/pubmed/14974085>.