Figure 1.

The family pedigree, chromatogram, and amino-acid conservation map are shown. A: Pedigree of the family studied demonstrating the X-linked inheritance pattern. The haplotypes for the polymorphic DNA markers flanking CACNA1F (DXS1003 and DXS7132; proximal and distal, respectively) in the three family members are also included. B: Chromatogram of the portion of CACNA1F exon 14 showing the c.1807G>C hemizygous change in cases II 1 and IV 1. Case III 1 is a female carrier and had no manifestations. C: Amino acid conservation map across species demonstrating that glycine at position 603 is conserved lower down to sticklebacks and zebrafish.