PIK3R1 and SHORT syndrome: We have previously shown that overexpression of two SHORT syndrome PIK3R1 variants – R649W and Y657X – impair insulin signalling and adipocyte differentiation of murine 3T3-L1 preadipocytes, consistent with impaired PI3Kα function and with the lipodystrophy and insulin resistance seen in SHORT syndrome (Huang-Doran et al., 2016).