A Novel Mutation in the L1CAM Gene: A Tale of Two Brothers - Abstract
L1 syndrome encompasses a spectrum of conditions that includes a common clinical finding of congenital hydrocephalus and X-linked inheritance. L1CAM is the only gene implicated in this condition. Approximately 247 different mutations have been reported in 300 families. We present a family with a novel mutation. We also describe the significance and role of congenital hydrocephalus related to perinatal morbidity and mortality. The role of the L1CAM gene and significance of mutations is described