Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome
Abstract 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 a...
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| Format: | Article |
| Language: | English |
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BMC
2025-05-01
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| Series: | Human Genomics |
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| Online Access: | https://doi.org/10.1186/s40246-025-00759-0 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Belén García-Bohórquez |
| collection | DOAJ |
| description | Abstract 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. |
| format | Article |
| id | doaj-art-106692b1d6e1442e81a1f4a1493f5708 |
| institution | Kabale University |
| issn | 1479-7364 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Human Genomics |
| spelling | doaj-art-106692b1d6e1442e81a1f4a1493f57082025-08-20T03:52:19ZengBMCHuman Genomics1479-73642025-05-011911610.1186/s40246-025-00759-0Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndromeBelén García-Bohórquez0Purificación Marín-Reina1Elena Aller2Pilar Barberán-Martínez3Miguel Armengot4Roberto Llorens-Salvador5Inmaculada Concepción Almor-Palacios6José M. Millán7Gema García-García8Molecular, Cellular and Genomics Biomedicine, Health Research Institute La FeDivision of Neonatology, University and Polytechnic Hospital La FeMolecular, Cellular and Genomics Biomedicine, Health Research Institute La FeMolecular, Cellular and Genomics Biomedicine, Health Research Institute La FeDepartment of Otorhinolaryngology, and Primary Ciliary Dyskinesia Unit, University and Polytechnic Hospital La FeClinical Imaging Area, University and Polytechnic Hospital La FeDepartment of Ophthalmology, University and Polytechnic La Fe HospitalMolecular, Cellular and Genomics Biomedicine, Health Research Institute La FeMolecular, Cellular and Genomics Biomedicine, Health Research Institute La FeAbstract 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.https://doi.org/10.1186/s40246-025-00759-0TBC1D32Retinitis pigmentosaHearing lossMinigene assayExpanding clinical spectrum |
| spellingShingle | 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 Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome Human Genomics TBC1D32 Retinitis pigmentosa Hearing loss Minigene assay Expanding clinical spectrum |
| title | Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome |
| title_full | Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome |
| title_fullStr | Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome |
| title_full_unstemmed | Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome |
| title_short | Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome |
| title_sort | two novel mutations in tbc1d32 add complexity to the oro facial digital syndrome |
| topic | TBC1D32 Retinitis pigmentosa Hearing loss Minigene assay Expanding clinical spectrum |
| url | https://doi.org/10.1186/s40246-025-00759-0 |
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