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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