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

Cohort studyMolecular genetics and genomics : MGG· Aug 2026

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

Shuang Liu, Benzhang Tao, Gan Gao … Lei Hou

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Laboratory Genetics & GenomicsCohort studyPrognosisQ3IF 2.3

MNX1 gene variants found in 3.7% of tethered cord syndrome patients

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

Shuang Liu … Lei Hou

Molecular genetics and genomics · Aug 2026 · Q3 in Genetics

Background

Tethered cord syndrome (tethered cord syndrome) is a neurodevelopmental disorder associated with neural tube defects (neural tube defects), yet its genetic underpinnings remain poorly characterized.

Methods

To elucidate its molecular basis, we conducted whole-exome sequencing (whole-exome sequencing) on 81 tethered cord syndrome patients.

n = 81 TCS patients

3.7%

Results

3.7%

MNX1 gene changes are a notable but minority cause of tethered cord syndrome

n = 81 TCS patients

More results

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 tethered cord syndrome patients.

More results

Additionally, tethered cord syndrome patients exhibited a significantly higher burden of damaging missense variants in neural tube defects-related genes.

We also identified a trigenic variant combination (AFDN/PCSK5/PRICKLE4) exclusively in tethered cord syndrome patients, suggesting potential oligogenic inheritance in tethered cord syndrome.

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Conclusion

Collectively, our findings expand the genetic architecture of tethered cord syndrome, highlight novel pathogenic mechanisms, and provide insights for future clinical surveillance.

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

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

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