Bi-allelic Recessive Loss-of-Function Variants in FANCM Cause Non-obstructive Azoospermia

In this study, whole-exome sequencing (WES) was applied to two Estonian brothers diagnosed with NOA and Sertoli cell-only syndrome (SCOS). Compound heterozygous loss-of-function (LoF) variants in FANCM (Fanconi anemia complementation group M) were detected as the most likely cause for their condition.

Source: The American Journal of Human Genetics - August 2, 2018 Category: Genetics & Stem Cells Authors: Laura Kasak, Margus Punab, Liina Nagirnaja, Marina Grigorova, Ave Minajeva, Alexandra M. Lopes, Anna Maria Punab, Kenneth I. Aston, Filipa Carvalho, Eve Laasik, Lee B. Smith, GEMINI Consortium, Donald F. Conrad, Maris Laan Tags: Article Source Type: research