Novel L1CAM splice site mutation in a young male with L1 syndrome.

摘要

The L1 cell adhesion molecule gene (L1CAM) is located in band Xq28 and consists of 28 exons [NC_000023.10, isoform 1, NCBI], which code for a transmembrane glycoprotein belonging to the immunoglobulin superfamily [Moos et al., 1988; Djabali et al., 1990]. The LI CAM protein is predominantly expressed in the nervous system [Kenwrick et al., 2000] and has been implicated in several central nervous system development processes including neuronal migration [Lindner et al., 1983], neurite outgrowth [Lagenaur and Lemmon, 1987] and fasciculation [Stallcup and Beasley, 1985], myelination [Wood et al., 1990], synaptogenesis, and growth cone morphology [Burden-Gulley et al., 1995].