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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