Whole Exome Sequencing Identifies Two Mutations in an Indian Patient with KBG Syndrome

 

Abstract

KBG syndrome is a condition characterised by macrodontia, neurological disturbance, short stature, a distinct cranio-facial appearance, and also the skeletal anomalies. The authors describe what appears to be the first case of KBG syndrome with mutation in two different gene reported from the Indian subcontinent. Meticulous evaluation of the patients helps to classify such cases which may otherwise remain undiagnosed. Further research is reasonable to regulate the classic and the variant presentations of this condition, with the follow-up of the patients that provides the valuable data insights into its natural history and long-term prognosis. As per database these variants have been not reported till date, we found two variants in an Indian patient.

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