Figure 3.

Recessive inheritance of E57K mutation in fibulin-4. A, DNA sequence analysis of FBLN4 revealed a homozygous 169G→A (E57K) mutation in the patient. Both parents were heterozygous, and a healthy control individual showed wild-type sequence (Wt). B, Multiple alignment of the peptide sequences of fibulins and fibrillin-1 shows the conservation of the E57 residue in all cbEGF-like modules. C, Three-dimensional structure of a pair of cbEGF modules, based on nuclear magnetic resonance studies of fibrillin-1 peptides,¹² shows that the residue corresponding to E57 is part of the calcium-binding site.