The gene involved in Rett&;s syndrome is ______
The gene involved in Rett&;s syndrome is MeCP2 gene located in X chromosome (Xq28 predominantly of paternal origin) Rett&;s Syndrome: Almost always affects girls (X-linked dominant) Development may proceed normally until 1 year of age After 1 year of age, rapid progressionn in language and hand skills, motor milestones, and accquired microcephaly become apparent Clinical features can include repetitive hand wringing movements, ataxia, breathing dysfunction, bruxism, scoliosis, austistic behavior, and profound mental retardation Autistic behavior is a typical finding in all patients Ref: Nelson textbook of pediatrics 21st edition Pgno: 3193
P53
Rb
MeCP2
FGFR3
Genetic and genetic disorders