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

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]