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Table 1 The Parental origin of de novo MECP2 frameshift mutations

From: Two new Rett syndrome families and review of the literature: expanding the knowledge of MECP2 frameshift mutations

Case no

Age of mothera

(Years)

Age of fathera

(Years)

MECP2

mutationb

Intergenic

SNPb

Parental

origin

RTT22

31

32

c.215delC

c.1461+1737G > A

Maternal

RTT55

40

43

c.32_50delins11

c.1461+878G > C

Paternal

RTT27

21

25

c. 766_779dup14

c.378-916A > G

Paternal

RTT12

19

30

c.808delC

c.378+266C > T

Maternal

RTT1

29

24

c.1150_1187del38

c.378+648A > G

Paternal

RTT35

30

32

c.1156_1199del44

c.378+266C > T

Paternal

RTT16

26

28

c. 1157_1197del41

c.1461+1737G > A

Paternal

RTT31

24

28

c.1164_1204del44

c.378+266C > T

Paternal

RTT8

23

27

c.1168_1196del29

c.378+266C > T

Paternal

  1. a The parents' age at the time of the RTT patient's birth
  2. b All nucleotides were numbered according to NCBI Reference Sequence: NM_004992.3