PMC5355729_01
Pedigree analysis of the CYP17A1 gene. The patient was demonstrated to harbor compound heterozygous mutations in CYP17A1, whereas the parents each harbored a single heterozygous mutation and the sister harbored two wild-type alleles. (A) A heterozygous mutation (TAC>AA) at position 985-987 in exon 6 was detected in the patient and father. (B) A heterozygous mutation (GACTCTTTC deletion) at position 1459-1467 in exon 8 was detected in the patient and mother. (C) Wild-type copies of exon 6 were detected in the patient's mother and sister. (D) Wild-type copies of exon 8 were detected in the patient's father and sister. (E) A schematic representation of the pedigree of the family. The patient (as indicated by the black arrow) harbored a compound mutation, derived from the paternal and maternal lines. CYP17A1, cytochrome P450 family 17 subfamily A member 1.
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Fortunately, the patient's sister was homozygous wild-type alleles from her parents (Fig. 1).