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Autism and autism spectrum disorders (ASD) affects the areas of social awareness and interaction, verbal and nonverbal communication, and behaviors and interests, which are grouped among neurobehavioral disorders. One in 68 children is affected with ASD according to the estimate from the Center for Disease Control and Prevention's autism and developmental disabilities monitoring network and an increasing prevalence observed worldwide. A characteristic heterogeneity in ASD determined genetic variability as a major contributor. Whole-exome sequencing of ASD individuals revealed that discrete de novo mutation (single-nucleotide variation or small indels) also contribute to the overall genetic risk of ASD apart from rare genetic variation affecting single nucleotides of protein-coding DNA or rare genomic copy number variants as assessed through other high-throughput genomic methods. These genes are involved in synaptic transmission and regulated during brain development by acting upstream or downstream of Wingless- related integration site (WNT), bone morphogenetic proteins/transforming growth factor-β, sonic hedgehog, fibroblast growth factor, and retinoic acid signaling pathways. The current review focuses on genes involved in synaptic function, undergoing de novo mutation leading to ASD condition.

The Glass syndrome is a rare genetic disorder that is associated with a multisystem disorder due to a SATB2 gene mutation. The intellectual development delay and the delay in speech are the predominant characteristics of the disorder. The reports on Glass syndrome are very few and have not been reported in India. In the present study, we report the Glass syndrome disorder in an Indian mother and her child, both affected by the same likely pathogenic mutation c.1741-2A>C intronic variant at intron 11 of the SATB2 gene. The mutation was observed as a heterozygous and autosomal dominant missense mutation through focused exome sequencing analysis. The variant identified has not been observed in the general population, and the clinical features like cleft palate, speech delay, and intellectual delay match the causative mutation. The present study is novel in exhibiting the intronic variant and identifying Glass syndrome in the Indian population. [ABSTRACT FROM AUTHOR]