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Article

MNS1 variant associated with situs inversus and male infertility.

European journal of human genetics : EJHG - 1 Jan 2020

Leslie Joseph S, Rawlins Lettie E, Chioza Barry A, Olubodun Oluwaseun R, Salter Claire G, Fasham James, Jones Hannah F, Cross Harold E, Lam Simon, Harlalka Gaurav V, Muggenthaler Martina M A, Crosby Andrew H, Baple Emma L

Abstract excerpt

Ciliopathy disorders due to abnormalities of motile cilia encompass a range of autosomal recessive conditions typified by chronic otosinopulmonary disease, infertility, situs abnormalities and hydrocephalus. Using a combination of genome-wide SNP mapping and whole exome sequencing (WES), we investigated the genetic cause of a form of situs inversus (SI) and male infertility present in multiple individuals in an...

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Source

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Identifiers

PMID: 31534215
DOI: 10.1038/s41431-019-0489-z
PMCID: PMC6906318

Genes

MNS1
SI

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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