Fig. 2.

Family pedigrees with their respective mutations. Squares represent males, circles represent females, black-filled symbols represent affected individuals and a + or − sign denotes the presence or absence of FLNA mutations. a Pedigree of case A, the Indian patient (proband) with a de novo FLNA missense mutation p.(Leu80Val) and his unaffected family members. b Pedigree of case B, the Bosnian patient with a frameshift p.(Tyr2642Thrfs*63) and a missense mutation p.(Pro2641Ala) in FLNA