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] |