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Table 3 Clinical and molecular characteristics of ATR-X patients referred for methylation study

From: Identification of epigenetic signature associated with alpha thalassemia/mental retardation X-linked syndrome

ATR-X patient no.

Mutation

1

c.109C>T; p.R37X

2

c.109C>T; p.R37X

3

c.109C>T; p.R37X

4

c.109C>T; p.R37X

5

c.109C>T; p.R37X

6

c.730A>C; p.I244L

7

c.758T>C; p.L253S

8

c.736T>C; p.R246C

9

c.736C>T; P.R246C

10

c.952G>T; p.G249C

11

c.4817G>A; p.S1606N

12

c.5579A>G; p.N1860S

13

c.5786A>G; p.K1929R

14

c.6254G>A; p.R2085H

15

c.6593A>G; p.H2198R

16

c.7156C>T; p.R2386X

17

c.7366_7367 InsA; p.M2456Nfs X42

18

Deletion of exon 2