A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

This report extends the phenotypic spectrum of variants identified in theSKI gene. We describe a new mutational hotspot associated with a marfanoid syndrome with no intellectual disability. Cardiovascular involvement was confirmed in a significant number of cases, highlighting the importance of accurately diagnosing SGS and ensuring appropriate medical treatment and follow-up.

http://link.springer.com/10.1007/s00439-019-02102-9

Source: Human Genetics - January 23, 2020 Category: Genetics & Stem Cells Source Type: research