A novel 11 base pair deletion in KMT2C resulting in Kleefstra syndrome 2

ConclusionThe majority of the other reported mutations are frameshift mutations upstream of the SET domain and are predicted to result in protein truncation. It is thought that truncation of the SET domain, results functionally in an inability to modify chromatin through histone methylation. This report expands the clinical and genetic characterisation of Kleefstra syndrome 2.

Source: Molecular Genetics & Genomic Medicine - December 27, 2023 Category: Genetics & Stem Cells Authors: Whitney Whitford, Juliet Taylor, Ian Hayes, Warwick Smith, Russell G. Snell, Klaus Lehnert, Jessie C. Jacobsen Tags: ORIGINAL ARTICLE Source Type: research