The contribution of de novo coding mutations to meningomyelocele.

doi:10.1038/s41586-025-08676-x

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Article

The contribution of de novo coding mutations to meningomyelocele.

Nature - 1 May 2025

Ha Yoo-Jin Jiny, Nisal Ashna, Tang Isaac, Lee Chanjae, Jhamb Ishani, Wallace Cassidy, Howarth Robyn, Schroeder Sarah, Vong Keng Ioi, Meave Naomi, Jiwani Fiza, Barrows Chelsea, Lee Sangmoon, Jiang Nan, Patel Arzoo, Bagga Krisha, Banka Niyati, Friedman Liana, Blanco Francisco A, Yu Seyoung, Rhee Soeun, Jeong Hui Su, Plutzer Isaac, Major Michael B, Benoit Béatrice, Poüs Christian, Heffner Caleb, Kibar Zoha, Bot Gyang Markus, Northrup Hope, Au Kit Sing, Strain Madison, Ashley-Koch Allison E, Finnell Richard H, Le Joan T, Meltzer Hal S, Araujo Camila, Machado Helio R, Stevenson Roger E, Yurrita Anna, Mumtaz Sara, Ahmed Awais, Khara Mulazim Hussain, Mutchinick Osvaldo M, Medina-Bereciartu José Ramón, Hildebrandt Friedhelm, Melikishvili Gia, Marwan Ahmed I, Capra Valeria, Noureldeen Mahmoud M, Salem Aida M S, Issa Mahmoud Y, Zaki Maha S, Xu Libin, Lee Ji Eun, Shin Donghyuk, Alkelai Anna, Shuldiner Alan R, Kingsmore Stephen F, Murray Stephen A, Gee Heon Yung, Miller W Todd, Tolias Kimberley F, Wallingford John B, Kim Sangwoo, Gleeson Joseph G

Abstract excerpt

Meningomyelocele (also known as spina bifida) is considered to be a genetically complex disease resulting from a failure of the neural tube to close. Individuals with meningomyelocele display neuromotor disability and frequent hydrocephalus, requiring ventricular shunting. A few genes have been proposed to contribute to disease susceptibility, but beyond that it remains unexplained1. We postulated that de novo...

Topics

Humans
Meningomyelocele
Animals
Female

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Cohort Studies

Genetic Predisposition to Disease

Netrin-1

Mutation, Missense

Mutation

Xenopus laevis

Signal Transduction

Microtubules

Source

Open in PubMed Open full text

Identifiers

PMID: 40140573
DOI: 10.1038/s41586-025-08676-x
PMCID: PMC12625549

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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