Figure 2. .

A and B, Pedigrees of the five Sardinian and three Turkish families. A blackened symbol indicates an affected individual with Crisponi syndrome; an unblackened symbol indicates an unaffected individual; a dot in the center of a symbol indicates an obligate carrier; a blackened symbol with slash indicates a deceased affected individual; and an asterisk (*) indicates that a sample from the subject was analyzed in the present study. E+ and E− indicate the presence or absence, respectively, of mutations, which are indicated by number(s) in parentheses and are described in panel C. In families F1 and F4, the probands CS03 and CS14 are compound heterozygous. C, CRLF1 sequence analysis. Electropherograms are shown for each of the four mutations found in the present study: heterozygous (middle) and homozygous (bottom) compared with wild type (top).