Una breve storia della Sindrome da Duplicazione di MECP2: 20 anni di comprensione clinica

Daniel Ta and i suoi collaboratori (Instituto Telethon per bambini, Australia) illustrano nel loro articolo "The Brief History of MECP2 Gene Duplication Syndrome: 20 Years of Clinical Understanding" le scoperte in campo clinico legate alla sindrome.

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

RIASSUNTO DELL'ARTICOLO:

MECP2 duplication syndrome (MDS) is a rare disease caused by duplication of the MECP2 gene (present on cromosoma X) which codes for the "methyl-CpG-binding" protein (MeCP2). When this same gene loses its function due to mutation, this is known as Rett sindrome (RTT).

MDS has a prevalence of one case every 150,000 births. Gli aspetti chiave della MDS includono disabilita' intellettiva, ritardo nello sviluppo, ipotonia, convulsioni, frequenti infezioni respiratorie, tratti comportamentali autistici e dismorfia, sebbene queste comorbidita' non siano ancora pienamente comprese. Questo articolo copre due decenni di casi studio di MDS a partire dalla sua scoperta nel 1999. After reviewing the characteristics reported, it identifies areas where knowledge of the disease is still scarce, and recommends a better understanding of the disease through an international data collection. This would also serve to clarify the area of clinical intersection between MDS and RTT.