Background Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are
associated with a newly identified neurodevelopmental disorder characterized mainly by …

Intellectual disability is a common condition with multiple etiologies. The number of
monogenic causes has increased steadily in recent years due to the implementation of next …

Through a multi-center collaboration study, we here report six individuals from five unrelated
families, with mutations in KAT6A/MOZ detected by whole-exome sequencing. All five …

Abstract Approximately 1–3% of children have intellectual disability or global developmental
delay. Heterozygous mutations have emerged as a major cause of different intellectual …

Purpose Pathogenic variants in KAT6A have recently been identified as a cause of
syndromic developmental delay. Within 2 years, the number of patients identified with …

Pathogenic variants in KAT6A, encoding a histone acetyltransferase, have been identified
as a cause of a developmental disorder with a definite clinical spectrum including …

Pathogenic KAT6A variants cause syndromic neurodevelopmental disability.“Speech delay”
is reported, yet none have examined specific speech and language features of KAT6A …

Neurodevelopmental disorders (NDD) are common, with 1–3% of general population being
affected, but the etiology is unknown in most individuals. Clinical whole‐exome sequencing …

De novo heterozygous mutations in the KAT6A gene give rise to a distinct intellectual
disability syndrome, with features including speech delay, cardiac anomalies, craniofacial …

Say–Barber–Biesecker–Young–Simpson syndrome (SBBYSS) and Genitopatellar
syndrome (GTPTS) are very rare conditions caused by KAT6B truncating variants. Because …