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

Asma SassiJulie DésirSarah DuerinckxJulie SobletSonia Van DoorenMaryse BonduelleMarc AbramowiczAnne Delbaere

Published in: Molecular genetics & genomic medicine (2021)

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

Keyphrases

early onset
end stage renal disease
ejection fraction
newly diagnosed
chronic kidney disease
peritoneal dialysis
intellectual disability