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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 disorder Gene(s) involved Gene(s) function Molecular cause Number Age range (years)
Angelman UBE3A Ubiquitin-protein ligase E3A Imprinting, mutation 14 1 to 55
Autism spectrum disorder (ASD) 119 1.83 to 35.16
Alpha thalassemia/mental retardation X-linked syndrome (ATR-X) ATRX Chromatin remodeling Mutation 15 0.7 to 27
Claes-Jensen KDM5C H3K4 demethylase Mutation 10 2 to 42
Coffin-Lowry RPS6KA3 Serine/threonine kinase Mutation 10 1.3 to 22.8
Floating-Harbor SRCAP Chromatin remodeling Mutation 17 4 to 42
Fragile X syndrome (FXS) FMR1 Translational control Mutation (CGG expansion) 32 0.08 to 48
Kabuki KMT2D H3K4 methyltransferase Mutation 46 0 to 24.1
Noonan PTPN11, RAF1, SOS1 RAS/MAPK signaling Mutation 15, 11, 14 0.2 to 49
Rett MECP2 Transcriptional repression Mutation 15 1 to 34
Saethre-Chotzen TWIST1 Transcription factor Mutation 22 0 to 38
Sotos NSD1 H3K36 methyltransferase Mutation 20 1.6 to 41
Weaver EZH2 H3K27 methyltransferase Mutation 7 2.58 to 43