Skip to main content

Advertisement

Table 1 Overview of the developmental disorders that were included in the screening (total N = 367) after quality control (QC) and filtering (see the “Methods” section and Fig. 1a)

From: Screening for genes that accelerate the epigenetic aging clock in humans reveals a role for the H3K36 methyltransferase NSD1

Developmental disorderGene(s) involvedGene(s) functionMolecular causeNumberAge range (years)
AngelmanUBE3AUbiquitin-protein ligase E3AImprinting, mutation141 to 55
Autism spectrum disorder (ASD)1191.83 to 35.16
Alpha thalassemia/mental retardation X-linked syndrome (ATR-X)ATRXChromatin remodelingMutation150.7 to 27
Claes-JensenKDM5CH3K4 demethylaseMutation102 to 42
Coffin-LowryRPS6KA3Serine/threonine kinaseMutation101.3 to 22.8
Floating-HarborSRCAPChromatin remodelingMutation174 to 42
Fragile X syndrome (FXS)FMR1Translational controlMutation (CGG expansion)320.08 to 48
KabukiKMT2DH3K4 methyltransferaseMutation460 to 24.1
NoonanPTPN11, RAF1, SOS1RAS/MAPK signalingMutation15, 11, 140.2 to 49
RettMECP2Transcriptional repressionMutation151 to 34
Saethre-ChotzenTWIST1Transcription factorMutation220 to 38
SotosNSD1H3K36 methyltransferaseMutation201.6 to 41
WeaverEZH2H3K27 methyltransferaseMutation72.58 to 43