Identification of a new mutation in kmt2c causing Kleefstra syndrome TYPE 2: A very rare disorder characterized by autism and development delay by Antonella Peduto in Journal of Clinical Case Reports Medical Images and Health Sciences
Identification of a new mutation in kmt2c causing Kleefstra syndrome TYPE 2: A very rare disorder characterized by autism and development delay by Antonella Peduto in Journal of Clinical Case Reports Medical Images and Health Sciences Abstract The prevalence of autism spectrum disorders (ASD) has risen over the last few decades from 2-4 in 10,000 to an estimate of 1 in 100. This is mostly due to changes in the broadening of investigation and diagnostic criteria. There are several rare monogenic diseases in which autism is a trait of neurodevelopment disorder, characterized by cognitive and motor disabilities, language impairment, in association with epilepsy, as well as other psychiatric disorders and distinctive physical features or multiorgan malformations. Some consider these disorders as “syndromic autism” and, among those, Kleefstra syndrome is a rare condition with a heterogenous clinical phenotype which includes autistic- like features. Kleefstra syndrome is caused by hap...