Clinical and genetic features of Kenny-Caffey syndrome type 2 with multiple electrolyte disturbances: A case report

Figure 3 Genetic pedigree of the patient showing the chromatograms of Sanger sequencing results of the FAM111A mutation for the patient and her parents. Data were obtained by Sanger sequencing during the confirmation of the diagnosis. Forward sequencing was performed for the mutation. In the pedigree, the black symbols represent probands. Squares and circles represent males and females, respectively. In the chromatogram, the black letters indicate the nucleotide sequence of the wild-type, while the nucleotides in red indicate mutations. R569H was identified in all probands but not in the parents who received the sequencing tests. The younger and older sisters were phenotypically normal and did not agree to undergo Sanger sequencing.