KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability, hypotonia, feeding difficulties, genital abnormalities, skeletal abnormalities and anomalies of the digits. KAT6B disorders are inherited in an autosomal dominant manner. To date, most individuals with a KAT6B disorder have had a de novo pathogenic variant. The prevalence of KAT6B disorders is not known, but is estimated at fewer than one in a million individuals. To date, approximately 140 individuals with molecularly confirmed KAT6B disorders have been reported in the literature.
KAT6B