Research Project Biology Honors
Noonan
Syndrome
Wendy Saldivar
Noonan Syndrome
-female pseudo-Turner syndrome, male Turner syndrome, NS, Turner phenotype with normal chromosomes (karyotype)
●
●
●
● no cure
1 in 2,500 children
○ calm symptoms
○ 7 males:1 female
● genetic counseling stops (delays) development
○ before birth: abnormal characteristics features
■ risks and/or possibilities are
○ facial characteristics explained ○ short stature
■ further studies are scheduled
■ options, interventions, and
○ heart defects treatments are discussed for the
○ physical problems family and for the child
AVERAGE DIAGNOSIS IS AT 9 YEARS
Affected Dad
Unaffected Mom
AUTOSOMAL DOMINANT:
(50% chance)
50%-84% chance
SPORADIC
●
AFFECTED GENE
●
UNAFFECTED GENE
gene is locate on a non-sex chromosome you can get the disease if you inherit the abnormal gene from only one parent
Affected Daughter
Affected Son
Unaffected Children
●
●
●
●
There is no test done at birth; however, as the child grows, you begin to notice the delay in development or strange characteristic features.
The doctor will diagnose the child due to the abnormal features and genetic tests will then be taken.
In many cases, NS is caused by gene mutations from the following genes:
PTPN11 (50%) on chromosome 12 , SOS1 (10%-15%), or RAF1 (5%-10%).
In seldom cases: KRAS, BRAF, or NRAS genes.
The genes are proteins that provide instructions for the development stages.
If genes get defected, the child will get the disease.
A GENETIC CAUSE
Resources: http://emedicine.medscape.com/article/947504-overview http://pediatrics.aappublications.org/content/126/4/746.full.pdf http://www.chop.edu/conditions-diseases/noonan-syndrome#.VPZ8kS6XzIV http://atlasgeneticsoncology.org/Kprones/NoonanID10085.html https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/412/viewAbstract http://www.genome.gov/25521674
Orphanet Journal of Rare Diseases | Full text | Noonan syndrome http://www.mayoclinic.org http://www.patient.co.uk
Syndrome
Wendy Saldivar
Noonan Syndrome
-female pseudo-Turner syndrome, male Turner syndrome, NS, Turner phenotype with normal chromosomes (karyotype)
●
●
●
● no cure
1 in 2,500 children
○ calm symptoms
○ 7 males:1 female
● genetic counseling stops (delays) development
○ before birth: abnormal characteristics features
■ risks and/or possibilities are
○ facial characteristics explained ○ short stature
■ further studies are scheduled
■ options, interventions, and
○ heart defects treatments are discussed for the
○ physical problems family and for the child
AVERAGE DIAGNOSIS IS AT 9 YEARS
Affected Dad
Unaffected Mom
AUTOSOMAL DOMINANT:
(50% chance)
50%-84% chance
SPORADIC
●
AFFECTED GENE
●
UNAFFECTED GENE
gene is locate on a non-sex chromosome you can get the disease if you inherit the abnormal gene from only one parent
Affected Daughter
Affected Son
Unaffected Children
●
●
●
●
There is no test done at birth; however, as the child grows, you begin to notice the delay in development or strange characteristic features.
The doctor will diagnose the child due to the abnormal features and genetic tests will then be taken.
In many cases, NS is caused by gene mutations from the following genes:
PTPN11 (50%) on chromosome 12 , SOS1 (10%-15%), or RAF1 (5%-10%).
In seldom cases: KRAS, BRAF, or NRAS genes.
The genes are proteins that provide instructions for the development stages.
If genes get defected, the child will get the disease.
A GENETIC CAUSE
Resources: http://emedicine.medscape.com/article/947504-overview http://pediatrics.aappublications.org/content/126/4/746.full.pdf http://www.chop.edu/conditions-diseases/noonan-syndrome#.VPZ8kS6XzIV http://atlasgeneticsoncology.org/Kprones/NoonanID10085.html https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/412/viewAbstract http://www.genome.gov/25521674
Orphanet Journal of Rare Diseases | Full text | Noonan syndrome http://www.mayoclinic.org http://www.patient.co.uk