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Article

A novel homozygous frameshift mutation in MNS1 associated with severe oligoasthenoteratozoospermia in humans

2 Oct 2020

Abstract excerpt

Oligoasthenoteratozoospermia (OAT) refers to the combination of various sperm abnormalities, including a decreased sperm count, reduced motility, and abnormal sperm morphology. Only a few genetic causes have been shown to be associated with OAT. Herein, we identified a novel homozygous frameshift mutation in meiosis-specific nuclear structural 1 (MNS1; NM_018365: c.603_604insG: p.Lys202Glufs*6) by whole-exome...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 33037173
DOI: 10.4103/aja.aja_56_20

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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