Fig. 2

Pedigrees and FLNA mutations in PBS patients. a FLNA dimer is composed of an N-terminal actin binding domain (ABD), 24 immunoglobulin (Ig) repeats with two calpain-sensitive hinges separating the IgFLNA repeat domains into Rod 1 (IgFLNA1–15), Rod 2 (IgFLNA16–23), and C-terminal dimerization domain (IgFLNA24). Identified mutations are indicated in red. b-d Pedigrees and Sanger sequencing confirmation of identified mutations. Affected males are indicated in black squares, carrier females shown by circles with black dot. Genotyping results are shown by WT (wildtype), MT (mutant) or NT (not tested). Pedigree 1 is multiplex family with two affected half-brothers while Pedigrees 2 and 3 are of sporadic PBS cases. In all cases, co-segregation of identified mutation with PBS phenotype and maternal inheritance suggests X-linked recessive mode of inheritance