FLNA and frontometaphyseal dysplasia: A single de novo mutation, 7315C>A of the FLNA gene, which results in PVNH and FMD in females, leads to two transcripts, an L2439M point mutant and a deletion mutant lacking 7 amino acids (Δ7: L2439-G2445) within repeat 23 (Figure 7A) [6], [7].