Anti-Müllerian Hormone: A Valuable Addition to the Toolbox of the Pediatric Endocrinologist

Figure 9

Mutations of AMHR-II gene in PMDS. Same representation as in Figure 6. All recurrent mutations are indicated in red. Asterisks represent splice mutations. Missense mutations are represented in yellow boxes, deletions (marked “d”) in green boxes, and nonsense mutations in white boxes. The deletion of 27 bases between bases 6331 and 6357 (d6331–6357 in exon 10) is extremely frequent: it is present in 21% of all PMDS families and in 44% of those with receptor mutations. Base numbering is from transcription initiation site, −78 bp from A of ATG.