Circle of Angels Research Fund - Rett Syndrome / Part 1.

Rett syndrome (symbolized RTT) is caused by sporadic mutations in the gene MECP2 located on the X chromosome. It almost exclusively affects girls -- male fetuses with the disorder rarely survive to term. Development is typically normal until 6-18 months, when language and motor milestones regress, purposeful hand use is lost and acquired deceleration in the rate of head growth (resulting in microcephaly in some) is seen. Hand stereotypies are typical and breathing irregularities such as hyperventilation, breathholding, or sighing are seen in many. Early on, autistic-like behavior may be seen. Rett syndrome is usually caused (95% or more) by a de novo mutation in the child (so it is inherited from a genotypically normal mother, i.e. without a MECP2 mutation). It can also be inherited from phenotypically normal mothers who have a germline mutation in the gene encoding methyl-CpG-binding protein-2, MECP2. MECP2 is found near the end of the long arm of the X chromosome at Xq28. An atypical form of Rett syndrome, characterized by infantile spasms or early onset epilepsy, can also be caused by a mutation to the gene encoding cyclin-dependent kinase-like 5 (CDKL5). Rett syndrome affects one in every 12,500 female live births by age 12 years.

Channel: People & Blogs
Uploaded: November 30, 1999 at 12:00 am
Author: SzChristie

Length: 06:04
Rating: 4.60
Views: 2379

Tags: Autism  Diseases  Rett  Syndrome  

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