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Table 3 Families with RTT in females and MECP2 mutation carrier females without RTT

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

MECP2 Mutation Phenotype male Phenotype Female Phenotype Mother Rf
Families with RTT in females
p.R106W c.316C > T   Two half sisters Classic RTT Asympt. mutation negative [15]
p.T158M c.473C > T Congenital encephalopathy Classic RTT Asympt. mutation carrier, SXCI [14]
p.R133C c.397C > T RTT variant Classic RTT Mild MR, mutation carrier, SXCI [13]
p.S134C c.401C > G RTT variant RTT variant, random XCI Asympt. mutation carrier, SXCI [11]
P.R168X c.502C > T   Two sisters Classic RTT Asympt. mutation carrier, SXCI [16]
p.V288X c.806delG Congenital encephalopathy Three females Mother; mild MR, SXCI Maternal sister; classic RTT Daughter; classic RTT Grandmother; Asympt., mutation negative, random XCI [16]
p.G163fs c.488_489del Congenital encephalopathy Classic RTT Asympt. mutation negative [12]
p.G252fs c.754insC Congenital encephalopathy Classic RTT Asympt. mutation negative [17]
p.L386fs c.1157_1197del41   Two sisters Classic RTT, random XCI RTT Variant, random XCI Mild MR, mutation carrier, SXCI Present case
p.P387fs c.1159_delCCinsT RTT variant Two sisters RTT Variant, random XCI Mild MR, SXCI Mild MR, mutation?, random XCI Present case
p.P388fs c.1164_1207del44 Two males Uncle and nephew RTT variants Two females Mother mild MR, SXCI Daughter classic RTT Grandmother, mild MR, mutation carrier, SXCI [10]
g.58483_65650del;
g.65664_66958del
Congenital encephalopathy Classic RTT Mild MR, mutation carrier, SXCI [30]
MECP2 mutation carrier females without RTT
p.T158M c.473C > T Two brothers Congenital encephalopathy   Asympt. mutation carrier, SXCI [31]
p.P322S c.964C > T RTT variant   Mild MR, mutation carrier, random XCI [32]
p.P380fs c.1140del86 Two brothers MR, neurologic symptoms, dimorphic features   Asympt. mutation carrier, XCI not available [28]
p.P384fs c.1154del32 Congenital encephalopathy   Asympt. mutation carrier, SXCI [26]
p.L386fs c.1158del44 RTT variant   Asympt. mutation carrier, SXCI [27]
  1. MR, presented with mental retardation; SXCI, Skewed X chromosome inactivation
  2. All nucleotides were numbered according to NCBI Reference Sequence: NM_004992.3