A partial MECP2 duplication in a mildly affected adult male: a putative role for the 3′ untranslated region in the MECP2 duplication phenotype
Neil A Hanchard, Claudia MB Carvalho, Patricia Bader, Aaron Thome, Lisa Omo-Griffith, Daniela del Gaudio, Davut Pehlivan, Ping Fang, Christian P Schaaf, Melissa B Ramocki, James R Lupski and Sau Wai Cheung
A new report published in BMC Medical Genetics describes a family including a father and daughter with a small Xq28 duplication including part of the MECP2 gene. This report includes several interesting findings.Both father and daughter are reported to have seizures and some degree of learning and communication challenges. The father, however, did not exhibit many of the severe deficits described in most males with MECP2 Duplications, suggesting a milder form to MECP2 Duplication syndrome in males with partial duplications. Perhaps more surprisingly, however, the daughter appeared to be affected as severely and perhaps more severely (this conclusion is a hard to make confidently considering their age differences) than her father suggesting that skewed inactivation may not protect against partial duplications.
Since, these findings are based on a single family, future findings may clarify or even refute them, but this report helps to advance scientific knowledge of the role of MECP2.