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Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome
Belén García-Bohórquez1,2, Purificación Marín-Reina3, Elena Aller1,2
1Molecular, Cellular and Genomics Biomedicine, Health Research Institute La Fe, Valencia, 46026, Spain.
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.
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