A homozygous FANCM frameshift pathogenic variant causes male infertility.

doi:10.1038/s41436-018-0015-7

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Article

A homozygous FANCM frameshift pathogenic variant causes male infertility.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

Yin Hao, Ma Hui, Hussain Sajjad, Zhang Huan, Xie Xuefeng, Jiang Long, Jiang Xiaohua, Iqbal Furhan, Bukhari Ihtisham, Jiang Hanwei, Ali Asim, Zhong Liangwen, Li Tao, Fan Suixing, Zhang Beibei, Gao Jianing, Li Yang, Nazish Jabeen, Khan Teka, Khan Manan, Zubair Muhammad, Hao Qiaomei, Fang Hui, Huang Jun, Huleihel Mahmoud, Sha Jiahao, Pandita Tej K, Zhang Yuanwei, Shi Qinghua

Abstract excerpt

PURPOSE: Fanconi anemia (FA) genes play important roles in spermatogenesis. In mice, disruption of Fancm impairs male fertility and testicular integrity, but whether FANCM pathogenic variants (PV) similarly affect fertility in men is unknown. Here we characterize a Pakistani family having three infertile brothers, two manifesting oligoasthenospermia and one exhibiting azoospermia, born to first-cousin parents. A...

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Identifiers

PMID: 29895858
DOI: 10.1038/s41436-018-0015-7
PMCID: PMC6752308

Genes

FANCM

Variants

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Source receipt: pubmed, retrieved 7 Sept 2026.

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