ERCC6 and premature menopause: As a result, we found one additional novel heterozygous missense mutation (ENST00000515869: c.3166G>A, p.V1056I) in PGBD3 and one heterozygous nonsense mutation (ENST00000515869: c.643G>T, p.E215X) in exon 4 of CSB in POF patients; the latter resulted in a truncated protein without PGBD3.