Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality. Issue 3 (13th January 2014) - Belet, Stefanie
Abstract Loss‐of‐function mutations in the PIGA gene are normally lethal in utero. In this study however, we report a loss‐of‐function PIGA mutation in boys from a large family who were diagnosed with a severe form of intellectual disability. Based on functional assays, we provide evidence that this mutation results in the production of a shorter PIGA protein with residual functionality which is sufficient to rescue the lethality but still results in clinical features including intellectual disability.