Pedigrees of families 114. Above each pedigree is the chromosomal location of its CFP-causing variant. Below each individual is the pedigree position and, for participating individuals, the genotype for the variant allele (abbreviated pedigree is shown for Fam10, see ref. 15 , and for Fam14, see ref. 14 ). For Fam1, -2 and -10 to -12, the WT allele is denoted by a black '+' and the duplication allele by a red 'dup'. For Fam39, -13 and -14, the WT and variant nucleotides are denoted by black and red letters, respectively. Squares show males, circles females; black fill shows affected and gray fill shows self-reported, unaffected but mild facial weakness on examination; and dotted square or circle shows nonpenetrant phenotype.
