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Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients

Several disorders characterized primarily by anomalies of the skeleton have recently been shown to be caused by mutations in the X-linked gene, FLNA. One of these conditions, the Melnick–Needles syndrome exhibits a phenotype that shares overlap with that of serpentine fibula–polycystic kidney syndrome and the autosomal dominant condition, Hajdu–Cheney syndrome. Here, we describe three individuals with these diagnoses. The individual with serpentine fibula–polycystic kidney syndrome, the fifth case reported in the literature, exhibited wormian bones which further expands the phenotypic spectrum for this condition and extends the overlap with Hajdu–Cheney syndrome. All three members of the filamin gene family, FLNA, and its functionally related paralogues, FLNB and FLNC, were screened for pathogenic mutations in all three individuals. We found a mutation in FLNA in the individual with Melnick–Needles syndrome, but no pathogenic variants in any filamin gene in the two individuals with Hajdu–Cheney syndrome and serpentine fibula–polycystic kidney syndrome. Clinical and molecular evidence indicates that Melnick–Needles syndrome is aetiologically distinct from Hajdu–Cheney syndrome and serpentine fibula–polycystic kidney syndrome, but these two latter conditions share many clinical similarities and may prove to be allelic to one another.