Gene involved in rett syndrome
Rett syndrome (T), originally termed cerebroatrophic hyperammonemia, is a rare genetic postnatal neurological disorder of the grey matter of the brain that almost exclusively affects females but has also been found in male patients. The clinical features include small hands and feet and a deceleration of the rate of head growth (including microcephaly in some). Repetitive stereotyped hand movements, such as wringing and/or repeatedly putting hands into the mouth, are also noted. People with Rett syndrome are prone to gastrointestinal disorders and up to 80% have seizures. They typically have no verbal skills, and about 50% of affected individuals do not walk. Scoliosis, growth failure, and constipation are very common and can be problematic. The signs of this disorder are most easily confused with those of Angelman syndrome, cerebral palsy and autism. Rett syndrome occurs in approximately 1:10,000 live female bihs in all geographies, and across all ethnicities. The syndrome was first described by Austrian neurologist Andreas Rett in 1966. While the disorder was identified scientifically, and could be reliably diagnosed, the causes remained unknown for decades. Huda Zoghbi demonstrated in 1999 that mutations in the gene MECP2 cause Rett syndrome
P53
MECP2
RB
BRCA
General pathology