TBX5 and Holt-Oram syndrome: A 19-year-old man with shoulder girdle weakness commonly seen in Holt-Oram syndrome carried the previously reported c.331G>T, p.(Asp111Tyr) TBX5 mutation (family 33, figure 1P).27 We identified the novel homozygous c.944T>G, p.(Glu315Ala) mutation in the transcriptional factor STAT5B in a sibling pair from a consanguineous family with growth retardation, dysmorphic face, and motor neuropathy (family 34) (figure 1Q).