Expanding <scp>MNS1</scp> Heterotaxy Phenotype
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 GeneMatcher to describe new cases with this rare syndrome, leading to the identification of another family. The first patient was a female presenting complete situs inversus and unusual symptoms, including severe myopia and dental agenesis of 10 permanent teeth. She was found to carry compound heterozygous frameshift and nonsense variants in MNS1. The second and third patients were sibling fetuses with homozygous in-frame deletion variants in MNS1 and homozygous missense variants in GLDN. Autopsies revealed a complex prenatal malformation syndrome. We add here new cases with the ultra-rare MNS1-related disorder and provide a review of all published individuals.
Authors
- Caroline Racine (ORCID: https://orcid.org/0000-0003-2378-5982)
- Boris Keren (ORCID: https://orcid.org/0000-0001-6172-8247)
- Christel Thauvin‐Robinet (ORCID: https://orcid.org/0000-0002-4155-139X)
- Laurence Olivier Faivre (ORCID: https://orcid.org/0000-0001-9770-444X)
- Julien Maraval (ORCID: https://orcid.org/0009-0003-6744-5821)
- Véronique Satre (ORCID: https://orcid.org/0000-0001-7852-8591)
- Ange‐Line Bruel (ORCID: https://orcid.org/0000-0002-0526-465X)
- Andrée Delahaye‐Duriez (ORCID: https://orcid.org/0000-0003-4324-7372)
- Anne‐Sophie Denommé‐Pichon (ORCID: https://orcid.org/0000-0002-8986-8222)
- Léa Gaudillat
- Jean‐Madelaine de Sainte Agathe
- Marie Lucain (ORCID: https://orcid.org/0009-0006-3634-1765)
- Charles Coutton
Institutions
- Centre National de la Recherche Scientifique (FR)
- Inserm (FR)
- Délégation Paris 7 (FR)
- Université Paris Cité (FR)
- Centre Hospitalier Universitaire de Grenoble (FR)
- Sorbonne Université (FR)
- Université Sorbonne Paris Nord (FR)
- Assistance Publique – Hôpitaux de Paris (FR)
- CHU Dijon Bourgogne (FR)
- Pitié-Salpêtrière Hospital (FR)
- Hôpital Jean-Verdier (FR)
- NeuroDiderot (FR)
- Université Grenoble Alpes (FR)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2024-09-05
- DOI
- https://doi.org/10.1002/ajmg.a.63862
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 1.11
Funders
- European Commission