20 years of clinical understanding

Daniel Ta and his colleagues (Telethon Kids Institute, Australia) summarise the clinical studies of the MECP2 gene duplication syndrome in their new article "A brief history of the MECP2 gene duplication syndrome: 20 years of clinical understanding".

Daniel Ta et al, A brief history of MECP2 duplication syndrome: 20 years of clinical understanding, Orphanet J Rare Dis 17, 131 (2022)

ARTICLE SUMMARY (Translated from English):

MECP2 gene duplication syndrome is a rare X-linked disorder leading to a neurodevelopmental disorder caused by duplication of the methyl-CpG-binding protein 2 (MECP2) gene, a gene whose mutations leading to loss of function result in Rett syndrome (RTT).

The prevalence of MECP2 gene duplication syndrome is estimated at 1/150,000 of births in boys. The main features of MeCP2dupS are intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, autism spectrum disorder and facial dysmorphia - although these comorbidities are not yet understood with sufficient precision. This review covers case studies from the last two decades since the syndrome was discovered in 1999. After a comprehensive review of reported features, this review has identified areas of limited knowledge, for which we recommend better phenotyping of this syndrome through international data collection. This effort would also help to distinguish clinical overlaps between duplication syndrome and RTT.