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Article

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

American journal of human genetics - 2 Aug 2018

Kasak Laura, Punab Margus, Nagirnaja Liina, Grigorova Marina, Minajeva Ave, Lopes Alexandra M, Punab Anna Maria, Aston Kenneth I, Carvalho Filipa, Laasik Eve, Smith Lee B, Conrad Donald F, Laan Maris

Abstract excerpt

Infertility affects around 7% of men worldwide. Idiopathic non-obstructive azoospermia (NOA) is defined as the absence of spermatozoa in the ejaculate due to failed spermatogenesis. There is a high probability that NOA is caused by rare genetic defects. In this study, whole-exome sequencing (WES) was applied to two Estonian brothers diagnosed with NOA and Sertoli cell-only syndrome (SCOS). Compound heterozygous...

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Identifiers

PMID: 30075111
DOI: 10.1016/j.ajhg.2018.07.005
PMCID: PMC6080835

Genes

FANCM

Variants

Provenance

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