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Article

Novel Variants in MDC1 are Associated With Severe Oligoasthenoteratozoospermia.

Clinical genetics - 1 Mar 2026

Liu Xu, Wang Yu, Tan Chen, Tan Hujia, Wang Wenjun, Hu Pengcheng, Cao Yunxia, Wang Fengsong, Lu Yichang, Zhu Fuxi

Abstract excerpt

Mediator of DNA damage checkpoint 1 (MDC1) is a protein closely associated with the repair of DNA damage. Recently, we identified three novel variants (NM_014641.3:c.C5977T; p.R1993X) (NM_014641.3:c.C5644T; p.R1882X; c.A1T; p.M1L) in MDC1 in two patients with severe oligoasthenoteratozoospermia (OAT). In vitro validation showed that the p.R1882X variant resulted in the truncation of the MDC1 protein, and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Adaptor Proteins, Signal Transducing
Share to Asthenozoospermia
Share to Cell Cycle Proteins
Share to Genetic Association Studies
Share to Histones
Share to Oligospermia
Share to Sperm Injections, Intracytoplasmic
Share to Trans-Activators

Source

Identifiers

PMID: 40954969
DOI: 10.1111/cge.70058

Genes

MDC1
OAT

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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