20 years of clinical understanding

Daniel Ta et al (Telethon Kids Institute, Australia) summarize in their new article « The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding » the clinical findings on the syndrome.

Daniel Ta i in, Krótka historia zespołu duplikacji MECP2: 20 lat zrozumienia klinicznego, Orphanet J Rare Dis 17, 131 (2022)

STRESZCZENIE PUBLIKACJI:

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

MDS has an estimated live birth prevalence in males of 1/150,000. The key features of MDS include intellectual disability, developmental delay, hypotonia, seizures, recurrent respiratory infections, gastrointestinal problems, behavioural features of autism and dysmorphic features—although these comorbidities are not yet understood with sufficient granularity. This review has covered the past two decades of MDS case studies and series since the discovery of the disorder in 1999. After comprehensively reviewing the reported characteristics, this review has identified areas of limited knowledge that we recommend may be addressed by better phenotyping this disorder through an international data collection. This endeavour would also serve to delineate the clinical overlap between MDS and RTT.