PMC4797552_01
Sequence analysis of exons of the HSD3B7 gene of the patient. Two identified mutations were c.503G>A (p.Trp168Ter) in exon 5 and c.683G>A (p.Arg228Gln) mutation in exon 6. The patient inherited the aforementioned two mutations from her parents as the compound heterozygote. The nucleotide exchange and insertion are marked by arrows.
CMJ-129-98-g001.jpg
PMC4797552_01_CMJ-129-98-g001.jpg
F1
SLC25A13 gene mutation were identified in the patient. Sequencing of the patient and parental homologous regions revealed the maternally inherited mutation c.503G>A (p.Trp168Ter) and the paternally inherited mutation c.683G>A (p.Arg228Gln) [Figure 1].