1. Human Genetics Webquest Alex Henson

2. MEDICAL

3. How does a person inherit it? Is it dominant or recessive?  95% of the time it is caused by “de novo” mutation, so they don’t inherit it from either parent.  The other 5% of the time its inherited from phenotypically normal moms who have germline mutations in the MECP2 gene.  It is dominant.

4. What are the possible genotypes of the parents?  If the mom has a germline mutation of MECP2, it is located on the x chromosome at Xq28.  If it is caused by a de novo mutation the gene that is mutated is the male copy of the X chromosome of the MECP2 gene.

5. How prevalent is this disease?  About 1 in every 12,500 females have Rett syndrome by the age of 12.  Because it is on the X chromosome, if a male has the disease they usually can not survive because they don’t have another normal X chromosome that can make the necessary proteins.

6. What are the chances of passing on this disease?  If the mom has the disease, when/if she passes it on to her children, it is VERY unlikely that she will pass it on to the next child..  If the mom has it on the MECP2 gene she can give it to her offspring

7. How is Rett Syndrome Diagnosed?  Usually the person that has Rett syndrome is not diagnosed until 6-18 months old. They will have symptoms similar to autism, and sometimes will be misdiagnosed, and also similar symptoms of cerebral palsy, but the regression is different.  “Doctors diagnose Rett syndrome by observing signs and symptoms during the child's early growth and development, and conducting ongoing evaluations of the child's physical and neurological status.”  They also have recently made a genetic test that confirms whether or not the child has the disease.

8. Symptoms  screaming fits  Panic attacks  inconsolable crying  avoidance of eye contact  lack of social/emotional reciprocity  general lack of interest  impaired use of nonverbal behaviors to regulate social interaction  loss of speech  Balance and coordination problems

9. Symptoms (continued)  possible short stature, and/or might be unusually proportioned because of difficulty walking or mailnutrition due to difficulty swallowing.  hypotonia  delayed or absent ability to walk  gait/movement difficulties  ataxia  microcephaly in some - abnormally small head, poor head growth  some forms of spasticity  spasmodic movements of hand or facial muscles  dystonia  grinding of teeth

10. Life Expactancy  Males: it is uncommon for a male to survive past birth, if they do they usually die before two years old.  Females: can live up to 40 years old.

11. Treatments  There is no cure for Rett syndrome.  Treatments include: Managing gastrointestinal and nurtrition issues Monitering scoliosis Increasing communication skills Parent counseling Social medications Sleep aids Anti-psychotics Therapy (occupational, speech and phsical)

12. Studies show..  Although there is no cure yet, they have found that restoring MECP2 function, it may lead to a cure.  IGF-1 has been used in mutant mice and has shown to partially reverse symptoms.

13. PERSONAL

14. Everyday life  What it is like: Most have no verbal skills, making socializing very difficult. It is obviously a much harder life than regular people, and they face the criticism of society as well. Sometimes they don’t have the ability to walk.

15. Quality of life  Although females with the disease can live up to 40 years old, there are a large portion of deaths that are abrupt.  It is overall, not a very high quality life style.

16. Limitations  Inability to speak  Inability to walk  Inability to socialize

17. Organizations  International Rett Syndrome Foundation  Rett Syndrome Association UK  Rett Syndrome Research Foundatoin

18. Possible Cures  There is a ton of research that goes on for Rett syndrome, so it is very possible they will find the cure for it, if there is one. There are a lot of people working on it, and a lot of progress has been made already.

19. Resources  www.wikipedia.com www.wikipedia.com  www.google.come www.google.come  http://www.serett.org/gallery2/main.php? g2_view=core.DownloadItem&g2_itemId =46&g2_serialNumber=2 http://www.serett.org/gallery2/main.php? g2_view=core.DownloadItem&g2_itemId =46&g2_serialNumber=2  www.nlm.nih.gov/medlineplus/images/dn a.jpg www.nlm.nih.gov/medlineplus/images/dn a.jpg  http://www.ninds.nih.gov/disorders/rett/d etail_rett.htm