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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