Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder

Original research article by F. Millan et al. (2016)

Read the abstract here.

The study used whole-exome sequencing to examine gene changes in 1,028 people with a suspected genetic cause for their developmental delay and/or intellectual disability. Ten people were found to have genetic changes in the KAT6A gene. Four of these people and their families have already been described in the literature, so this article focuses on the remaining six new families. All six people with intellectual disability were found to have de novo changes (not present in either parent) that were predicted to have damaging effects. These people were reported to experience moderate to severe neurodevelopmental delay, including absent or minimal verbal communication, slowed speech, low muscle tone, problems communicating with others, heart disease, small head size, and differences in facial features. See the table below for a summary of the findings.

Clinical Features Observed Number of Individuals with Feature
Developmental delay/Intellectual Disability 6/6
Motor development 5/6
Speech delay 3/6
Low muscle tone (hypotonia) 5/6
Failure to thrive 4/6
Small head size (microcephaly) 2/6
Differences in facial features 6/6
Heart defect at birth (atrial septal defect) 1/6