Novel truncating variant in KMT2E associated with cerebellar hypoplasia and velopharyngeal dysfunction

Abstract

KMT2E-related neurodevelopmental disorder is a recently described intellectual disability syndrome often with speech difficulties. Here, we describe an individual with a heterozygous frameshift variant in KMT2E (NM_182931.2:c.2334_2337delTTAC, p.[Tyr779AlafsTer41]), intellectual disability, cerebellar hypoplasia, and velopharyngeal dysfunction. This case suggests potential mechanisms of speech disturbance in the disorder, requiring further investigation.

Keywords: KMT2E; cerebellar hypoplasia; neurodevelopmental disorder; velopharyngeal dysfunction.