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 …

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 …

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 …

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

KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is
involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and …

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

Abstract Purpose Genitopatellar syndrome and Say–Barber–Biesecker–Young–Simpson
syndrome are caused by variants in the KAT6B gene and are part of a broad clinical …

Mutations in KAT6A, encoding a member of the MYST family of histone acetyl-transferases,
were recently reported in patients with a neurodevelopmental disorder (OMIM:# 616268 …