Whole exome sequencing uncovers novel genetic insights into Tethered cord syndrome.

Shuang Liu, Benzhang Tao, Gan Gao, Feng Zhang, Shuyan Tang, Lei Hou

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In one paragraph

Article in Molecular genetics and genomics : MGG, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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5 · Who and what money

Authors and funding

6 authors.

Shuang Liu *Obstetrics and Gynecology Hospital, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, 200032, China.

Benzhang Tao *Department of Neurosurgery, The First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.

Gan GaoDepartment of Neurosurgery, The First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China.

Feng ZhangObstetrics and Gynecology Hospital, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, 200032, China.

Shuyan TangSchool of Medicine, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University, Shanghai, 200030, China. sy_tang05@outlook.com.

Lei HouDepartment of Neurology, The First Medical Center of Chinese PLA General Hospital, Beijing, 100853, China. houlei_sz@126.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Tethered cord syndrome (TCS) is a neurodevelopmental disorder associated with neural tube defects (NTD), yet its genetic underpinnings remain poorly characterized. To elucidate its molecular basis, we conducted whole-exome sequencing (WES) on 81 TCS patients. Our analysis revealed that MNX1 variants, including two microdeletions and a deleterious missense variant, accounted for 3.7% (3/81) of cases in this cohort. Furthermore, gene-based collapsing analysis against 5,000 healthy controls revealed eight genes significantly enriched for loss of function variants and nine genes with an excess burden of damaging missense variants in TCS patients. Additionally, TCS patients exhibited a significantly higher burden of damaging missense variants in NTD-related genes. We also identified a trigenic variant combination (AFDN/PCSK5/PRICKLE4) exclusively in TCS patients, suggesting potential oligogenic inheritance in TCS. Collectively, our findings expand the genetic architecture of TCS, highlight novel pathogenic mechanisms, and provide insights for future clinical surveillance.

Indexed as

Exome SequencingHomeodomain ProteinsNeural Tube DefectsTranscription FactorsFemaleHumansMaleMutation, MissenseHomeodomain ProteinsMNX1 protein, humanTranscription FactorsDamaging missenseMNX1Neural tube defectsTethered cord syndrome

Identifiers

PMID42566055

DOI10.1007/s00438-026-02490-4

What Socratic holds

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.