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Fig. 5 | BMC Medical Genetics

Fig. 5

From: Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene

Fig. 5

Human Disease Causing Mutations in FLNA in Surviving and Non-surviving Males. a FLNA disease-causing mutations cluster in ‘hot spots.’ PVNH mutations are largely found in the actin binding domain (ABD) while OPD spectrum disorders (including OPD, FMD and MNS) cluster in IgFLNA10. We identified 3 novel PBS variants: A1448V in IgFLNA13 (Rod 1), C2160R in IgFLNA20 and G2236E in IgFLNA21 (Rod 2). b Model for FLNA interaction with integrins. In a relaxed state, there is an auto-inhibitory interaction between Ig20–21 that masks the integrin binding site on Ig21. Normally, mechanical stretching can cause exposure of the integrin binding site on Ig21. Mutations in Ig19–21 result in loss of FLNA function as a stretch sensor and disruption of the auto-inhibitory interaction between Ig20–21 causing constitutive exposure of the integrin binding site on Ig21 and thereby enhanced binding to integrins

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