The intronic variant of SATB2 gene observed in an Indian Glass syndrome family

Abstract

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.