Abstract

The ARX gene belongs to a family of paired-class homeobox genes that play a pivotal role in the embryogenesis of all animals, including the development of the CNS. Since the first report in 2002 linking ARX mutations to mental retardation and various forms of epilepsy,1 10 distinct disease phenotypes have been characterized, albeit with some clinical overlap. More severe ARX mutations (deletions, frameshifts, null mutations, or missense mutations within the homeobox) cause malformation syndromes, including lissencephaly and agenesis of the corpus callosum (variably associated with abnormal genitalia or mental retardation). Less severe ARX mutations (particularly trinucleotide repeat expansions in the first or second polyalanine tract, and rarely missense mutations outside the homeobox) cause syndromes without malformations, including mental retardation with or without seizures, infantile spasms, myoclonic epilepsy with spasticity and intellectual disability, and Partington syndrome (mental retardation, seizures, and mild distal dystonia). Inheritance of these …

Full Text
Published version (Free)

Talk to us

Join us for a 30 min session where you can share your feedback and ask us any queries you have

Schedule a call