De novo loss-of-function variants of ASH1L are associated with an emergent neurodevelopmental disorder

European Journal of Medical Genetics
Wei ShenSarah L Dugan

Abstract

De novo variants of ASH1L, which encodes a histone methyltransferase, have been reported in a few patients with intellectual disability and autistic features. Here, we identified a novel de novo frame-shift variant, c.2422_2423delAAinsT which predicts p.(Lys808TyrfsTer40), in ASH1L in a patient with multiple congenital anomalies (MCA), fine motor developmental delay, learning difficulties, attention deficit hyperactivity disorder, sleep apnea, and scoliosis. This frame-shift variant is expected to result in loss-of-function. Our report provides further evidence to support loss-of-function alterations of ASH1L as causative for an emergent neurodevelopmental syndrome characterized by MCA, intellectual disability, and behavioral problems, and further delineates this genetic disorder.

Citations

Nov 2, 2019·Molecular Psychiatry·Shiguo LiuJi-Song Guan
May 14, 2020·The Journal of Biological Chemistry·Bin XuRonald J Koenig
Dec 2, 2020·Developmental Neurobiology·Cheng ZhangFengyuan Che
Aug 11, 2021·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·Hailing LiuLing Fang

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