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THUMPD1-Related Neurodevelopmental Disorder: A Novel Homozygous Loss-of-Function Variant with an Unusual Skeletal

Serife Ozturk Yilmaz1, Mehmet Kocabey2, Huseyin Bahadir Senol3

  • 1Department of Pediatric Genetics, Dokuz Eylül University Faculty of Medicine, İzmir, Turkey.

Molecular Syndromology
|August 14, 2026
PubMed
Summary

Biallelic loss-of-function variants in the THUMPD1 gene cause Neurodevelopmental Disorder with Speech Delay and Variable Ocular Anomalies (NEDSOA). A novel THUMPD1 variant was identified in two sisters with NEDSOA, one of whom showed unique skeletal abnormalities.

Keywords:
Neurodevelopmental disorderSkeletal anomaliesSyndromic intellectual disabilityTHUMPD1tRNA modification

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