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A Novel Clinical Feature in NOG Gene Mutation-Associated Syndrome.

Matea Zrno1,2, Tena Simunjak2, Filip Bacan3

  • 1Ministry of Defense of the Republic of Croatia, 10000 Zagreb, Croatia.

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|October 28, 2025
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Summary

This study reports a family with NOG gene mutations causing NOG-related symphalangism spectrum disorder (NOG-SSD), presenting with mixed hearing loss. Surgical intervention improved conductive hearing loss, but sensorineural loss required hearing aids, highlighting a potential new manifestation.

Area of Science:

  • Genetics
  • Otolaryngology
  • Developmental Biology

Background:

  • The NOG gene encodes noggin, a critical regulator of bone morphogenetic protein (BMP) signaling.
Keywords:
NOG geneTeunissen-Cremersmixed hearing lossstapes ankylosissyndrome

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  • Mutations in the NOG gene cause NOG-related symphalangism spectrum disorder (NOG-SSD), characterized by skeletal and craniofacial abnormalities.
  • Previous reports of NOG-SSD primarily described conductive hearing loss.