KAT6A Syndrome (Arboleda-Tham Syndrome)

KAT6A Syndrome (Arboleda-Tham Syndrome) is a multisystem neurodevelopmental disorder with developmental delay or intellectual disability, severe expressive speech impairment, hypotonia, feeding difficulty, distinctive facial features and variable congenital heart, ocular, gastrointestinal and genital anomalies.

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Genetics

Autosomal dominant disease usually caused by a de novo heterozygous pathogenic variant in KAT6A. Truncating loss-of-function variants are most common, although pathogenic missense variants have also been reported.

Molecular Mechanism

KAT6A is a MYST-family lysine acetyltransferase that regulates chromatin accessibility, transcription, cell-cycle control and embryonic patterning. Reduced or altered acetyltransferase function disrupts developmental gene-expression programmes in multiple tissues.

Therapy

No disease-modifying therapy exists. Management includes early communication and developmental support, feeding and gastrointestinal care, and surveillance and treatment of cardiac, visual, hearing, orthopedic, endocrine and sleep complications.

CCP Activity

CCP is developing an inducible KAT6A disease model. Further characterization will combine developmental and neurobehavioral phenotyping with cardiac and systemic assessment.

Mouse Models Mouse Models & Gene Cards

Mouse Models	Gene Cards
TBD	TBD