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Table 2 Sequence variations in the MECP2 3'UTR that have been reported in non-RTT neurological disorders, atypical RTT, or RTT without a detectable pathogenic coding region mutation

From: Regulatory functions and pathological relevance of the MECP2 3′UTR in the central nervous system

Nucleotide change Disease Notes Reference
c.*98insA 1. ADHD   1. Shibayama et al. (2004) [86]
2. ID   2. Tejada (2006) [29]
3. PMD delay, ID, autism   3. Santos et al. (2008) [88]
c.*177G > C Autism   Shibayama et al. (2004) [86]
c.*5348T > C Autism   Shibayama et al. (2004) [86]
c.*93G > A ID Reported in two patients; one also had an intronic variation. Ylisaukko-oja et al. (2005) [90]
c.*139G > A Autism with regression   Xi et al. (2007) [87]
c. *371G > C Autism Occurs in conserved sequence in patient with reduced MECP2 mRNA levels. Coutinho et al. (2007) [61]
c.*554G > A Autism Occurs in conserved sequence in patient with reduced MECP2 mRNA levels. Coutinho et al. (2007) [61]
c.*2556T > A Autism Occurs in conserved sequence in patient with reduced MECP2 mRNA levels. Coutinho et al. (2007) [61]
c.*2956G > A Autism Occurs in conserved sequence in patient with reduced MECP2 mRNA levels. Coutinho et al. (2007) [61]
c.*9G > A Atypical RTT with ID and autism No coding MECP2 mutation. Santos et al. (2008) [88]
c.*8500C > G; *8503delC ID, ataxia, epilepsy C > G variant inherited from unaffected father, deletion from mother. Santos et al. (2008) [88]
c.473C > T; *14G > A Atypical RTT Missense mutation in MBD combined with 3'UTR variation Santos et al. (2008) [88]
c.*92C > G RTT Non-coding MECP2 mutation Fendri-Kriaa et al. (2010) [91]
  1. ID intellectual disability, PMD psychomotor development, MBD methyl-CpG-binding domain