FIGURE 2:

Identification of TRPM7 mutations. (A) Mutation analysis chromatograms of F1, demonstrating the presence of the mutation in the proband (II.2), the brother of the proband (II.3) and one child of the proband (III.3). (B) Mutation analysis chromatograms of F2, demonstrating the presence of the mutation in the proband (II.1). (C) Affected family members from F1 carry a TRPM7 splice site mutation at the first nucleotide of the first intron (c.3+1 G>C). The de novo mutation in F2 is located in exon 22 and results in a p.Gly1046Asp missense mutation. Mutations are indicated by the black arrows.