Table 1.

Congenital Adrenal Hyperplasia Patients Enrolled in this Study

Patient/Donor Identification	Gene Affected	DNA	Protein
Patient #1	CYP21A2	c.515T > A	p.(Ile172Asn)
Patient #2	CYP21A2	c.955C > T	p.(Gln319Stop)
Patient #3	STAR	c.666delC	p.(Thr223Leufs∗98)
Patient #4	HSD3B2	NA	NA
Patient #5	CYP11A1	c.940G > A	p.(Glu314Lys)
		c.990G > A

Patient #1 presents a simple virilizing form of CAH due to one of the most common mutations in CYP21A2 (p.I172N). Patient #2 harbors a premature stop codon in CYP21A2 at glutamine 319 (p.Q319^∗), which has been previously described as pathogenic. Patient #3 harbors a frameshift mutation in the STAR protein (p. Thr223fs), leading to disruption of the C-terminal START domain responsible for cholesterol binding and promotion of the translocation of cholesterol to the mitochondrial inner membrane. Patient #4 was diagnosed with HSD3B2 deficiency biochemically. Patient #5 is compound heterozygous for two putative splicing mutations in the CYP11A1 gene, which result in exon 5 skipping and a subsequent frameshift (L.A.M., unpublished data).