Five new cases of syndromic intellectual disability due to KAT6A mutations: widening the molecular and clinical spectrum.

ABSTRACT:

Background

Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and speech delay, hypotonia, and heart and eye malformations. Although loss of function (LoF) mutations were initially reported as causing this disorder, missense mutations, to date always involving serine residues, have recently been associated with a form of the disorder without cardiac involvement.

Results

In this study we present five new patients, four with truncating mutations and one with a missense change and the only one not presenting with cardiac anomalies. The missense change [p.(Gly359Ser)], also predicted to affect splicing by in silico tools, was f

SUBMITTER: Urreizti R 

PROVIDER: S-EPMC7011274 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature