Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea

ConclusionWe report here for the first time compound heterozygous truncating mutations ofNOBOX in outbred patients, generalizing biallelicNOBOX null mutations as a cause of severe POI with primary amenorrhea. In addition, our findings also suggest thatNOBOX haploinsufficiency is tolerated.

Source: Molecular Genetics & Genomic Medicine - September 4, 2021 Category: Genetics & Stem Cells Authors: Asma Sassi, Julie D ésir, Sarah Duerinckx, Julie Soblet, Sonia Van Dooren, Maryse Bonduelle, Marc Abramowicz, Anne Delbaere Tags: ORIGINAL ARTICLE Source Type: research