New discoveries in molecular genetics of congenital cranial dysinnervation disorders

Abstract

The congenital cranial dysinnervation disorders (CCDDs) is a set of congenital,nonprogressive abnormalities of ocular motility with or without associated systemic abnormalities,which is caused by dysplasia or completely deficiency of one or more cranial nerves,leads to dysinnervation of extraocular muscles.To date,several pathogenic genes have been found in CCDDs,including SALL4,CHN1,HOXA1,KIF21A,PHOX2A,TUBB3,TUBB2B,ROB03,HOXB1,and so on.Our understanding of the CCDDs is broadening,but it has now become clear that phenotype dose not completely predict the genotype of certain CCDDs categories,and the genotype does not completely predict the phenotype.We reviewed the clinical manifestations and new discoveries in molecular genetics of different types of CCDDs. Key words: congenital cranial dysinnervation disorders; genetics; ocular motility; mutation