Fig. 5.

Sequence electropherograms showing the StAR gene mutations in the patient and her father. Sequence analysis of the StAR gene revealed two hemizygous nonsense mutations at c. 229C > T (p. Q77X) and c. 722C > T (p. Q258X). The heterozygous mutation of c. 229C > T (p. Q77X) was found in the patient’s father. Because the patient’s mother had died due to a traffic accident, the mother’s sequences could not be tested. The black arrows indicate the hemizygous nucleotides of c. 229C > T (p. Q77X) and c. 722C > T (p. Q258X) from the patient and the heterozygous mutation from the patient’s father