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Article

Expanding MNS1 Heterotaxy Phenotype.

American journal of medical genetics. Part A - 1 Jan 2025

Maraval Julien, Delahaye-Duriez Andrée, Racine Caroline, Bruel Ange-Line, Denommé-Pichon Anne-Sophie, Gaudillat Léa, Thauvin-Robinet Christel, Lucain Marie, Satre Véronique, Coutton Charles, de Sainte Agathe Jean-Madelaine, Keren Boris, Faivre Laurence

Abstract excerpt

MNS1 (meiosis-specific nuclear structural protein-1 gene) encodes a structural protein implicated in motile ciliary function and sperm flagella assembly. To date, two different homozygous MNS1 variants have been associated with autosomal recessive visceral heterotaxy (MIM#618948). A French individual was identified with compound heterozygous variants in the MNS1 gene. A collaborative call was proposed via...

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Identifiers

PMID: 39233552
DOI: 10.1002/ajmg.a.63862

Genes

MNS1
GLDN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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