Human Genetics Webquest Alex Henson
MEDICAL
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.
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.
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.
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
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.
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
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
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.
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)
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.
PERSONAL
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.
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.
Limitations Inability to speak Inability to walk Inability to socialize
Organizations International Rett Syndrome Foundation Rett Syndrome Association UK Rett Syndrome Research Foundatoin
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.
Resources g2_view=core.DownloadItem&g2_itemId =46&g2_serialNumber=2 g2_view=core.DownloadItem&g2_itemId =46&g2_serialNumber=2 a.jpg a.jpg etail_rett.htm