Similarly, in family F4429 with congenital adrenal hyperplasia we made a molecular diagnosis based on CYP21A2:NM_000500.9:c.92 C > T;p.(Pro31Leu) until we later discovered the causal variant to be a genomic rearrangement involving exon 1-3 of the same gene. Here, CYP21A2 is linked to congenital adrenal hyperplasia.