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Background <p>Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic features. Mutations in <i>TBC1D32</i> were associated to retinal dystrophy and OFD, defining this form as OFD-IX.</p> Results <p>A clinical exome analysis performed on a patient presenting with OFD-IX and sensorineural hearing loss (SNHL) identified two variants in <i>TBC1D32</i>, one of which affects splicing, with its impact validated using a minigene assay.</p> Conclusions <p>These results suggest that SNHL may represent a new clinical feature associated with this gene.</p>

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Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年5月3日

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  • Belén García-Bohórquez,
  • Purificación Marín-Reina,
  • Elena Aller,
  • Pilar Barberán-Martínez,
  • Miguel Armengot,
  • Roberto Llorens-Salvador,
  • Inmaculada Concepción Almor-Palacios,
  • José M. Millán,
  • Gema García-García

摘要

Background

Ciliopathies are characterized by the dysfunction of cilia, being inherited retinal dystrophies (IRDs) included in sensory ciliopathies. Besides, oro-facial-digital syndrome (OFD) is caused by mutations in ciliary genes, leading to dysmorphic features. Mutations in TBC1D32 were associated to retinal dystrophy and OFD, defining this form as OFD-IX.

Results

A clinical exome analysis performed on a patient presenting with OFD-IX and sensorineural hearing loss (SNHL) identified two variants in TBC1D32, one of which affects splicing, with its impact validated using a minigene assay.

Conclusions

These results suggest that SNHL may represent a new clinical feature associated with this gene.