Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
<i>CNGB1</i> gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort wi...
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MDPI AG
2023-03-01
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| Series: | Genes |
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| Online Access: | https://www.mdpi.com/2073-4425/14/4/830 |
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| author | Sara Geada Francisco Teixeira-Marques Bruno Teixeira Ana Luísa Carvalho Nuno Lousan Jorge Saraiva Joaquim Murta Rufino Silva Xavier Zanlonghi Sabine Defoort-Dhellemmes Vasily Smirnov Claire-Marie Dhaenens Catherine Blanchet Isabelle Meunier João Pedro Marques |
| author_facet | Sara Geada Francisco Teixeira-Marques Bruno Teixeira Ana Luísa Carvalho Nuno Lousan Jorge Saraiva Joaquim Murta Rufino Silva Xavier Zanlonghi Sabine Defoort-Dhellemmes Vasily Smirnov Claire-Marie Dhaenens Catherine Blanchet Isabelle Meunier João Pedro Marques |
| author_sort | Sara Geada |
| collection | DOAJ |
| description | <i>CNGB1</i> gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with <i>CNGB1</i>-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed <i>CNGB1</i>-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 ± 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G > T. Although 11/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9/15. Despite widespread retinal degeneration being present in 14/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the <i>CNGB1</i> gene and expands the mutational spectrum of <i>CNGB1</i>-related disease by reporting two novel variants. |
| first_indexed | 2024-03-11T04:58:40Z |
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| institution | Directory Open Access Journal |
| issn | 2073-4425 |
| language | English |
| last_indexed | 2024-03-11T04:58:40Z |
| publishDate | 2023-03-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Genes |
| spelling | doaj.art-0aaf5d4a4d944baa82a3e947deb30a552023-11-17T19:23:05ZengMDPI AGGenes2073-44252023-03-0114483010.3390/genes14040830Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic CohortSara Geada0Francisco Teixeira-Marques1Bruno Teixeira2Ana Luísa Carvalho3Nuno Lousan4Jorge Saraiva5Joaquim Murta6Rufino Silva7Xavier Zanlonghi8Sabine Defoort-Dhellemmes9Vasily Smirnov10Claire-Marie Dhaenens11Catherine Blanchet12Isabelle Meunier13João Pedro Marques14Ophthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, PortugalDepartment of Otorhinolaryngology, Centro Hospitalar do Tâmega e Sousa (CHTS), 4560-162 Penafiel, PortugalOphthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, PortugalMedical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, PortugalDepartment of Otorhinolaryngology, Centro Hospitalar do Tâmega e Sousa (CHTS), 4560-162 Penafiel, PortugalMedical Genetics Unit, Centro Hospitalar e Universitário de Coimbra, 3000-602 Coimbra, PortugalOphthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, PortugalOphthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, PortugalEye Department, Rennes University Hospital, 35 033 Rennes, FranceDepartment of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, 59 037 Lille, FranceDepartment of Visual Exploration and Neuro-Ophthalmology, Robert Salengro Hospital, 59 037 Lille, FranceUniversity of Lille, INSERM, CHU Lille, U1172-LilNCog-Lille Neuroscience & Cognition, 59 000 Lille, FranceReference Centre for Inherited Sensory Diseases, Montpellier University Hospital, 34 295 Montpellier, FranceSensgene Care Network, 67 091 Strasbourg, FranceOphthalmology Unit, Centro Hospitalar e Universitário de Coimbra (CHUC), 3000-075 Coimbra, Portugal<i>CNGB1</i> gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with <i>CNGB1</i>-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients with molecularly confirmed <i>CNGB1</i>-related RP were included. All patients underwent a complete ophthalmological examination complemented by psychophysical olfactory evaluation. Fifteen patients (10 families: 8 Portuguese, 1 French, and 1 Turkish), mean aged 57.13 ± 15.37 years old (yo), were enrolled. Seven disease-causing variants were identified, two of which are reported for the first time: c.2565_2566del and c.2285G > T. Although 11/15 patients reported onset of nyctalopia before age 10, diagnosis was only established after 30 yo in 9/15. Despite widespread retinal degeneration being present in 14/15 probands, a relatively preserved visual acuity was observed throughout follow-up. Olfactory function was preserved in only 4/15 patients, all of whom carried at least one missense variant. Our study supports previous reports of an autosomal recessive RP-olfactory dysfunction syndrome in association with certain disease-causing variants in the <i>CNGB1</i> gene and expands the mutational spectrum of <i>CNGB1</i>-related disease by reporting two novel variants.https://www.mdpi.com/2073-4425/14/4/830inherited retinal diseaserod-cone degenerationretinitis pigmentosaolfactory dysfunction<i>CNGB1</i> |
| spellingShingle | Sara Geada Francisco Teixeira-Marques Bruno Teixeira Ana Luísa Carvalho Nuno Lousan Jorge Saraiva Joaquim Murta Rufino Silva Xavier Zanlonghi Sabine Defoort-Dhellemmes Vasily Smirnov Claire-Marie Dhaenens Catherine Blanchet Isabelle Meunier João Pedro Marques Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort Genes inherited retinal disease rod-cone degeneration retinitis pigmentosa olfactory dysfunction <i>CNGB1</i> |
| title | Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort |
| title_full | Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort |
| title_fullStr | Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort |
| title_full_unstemmed | Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort |
| title_short | Mutational Spectrum, Ocular and Olfactory Phenotypes of <i>CNGB1</i>-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort |
| title_sort | mutational spectrum ocular and olfactory phenotypes of i cngb1 i related rp olfactory dysfunction syndrome in a multiethnic cohort |
| topic | inherited retinal disease rod-cone degeneration retinitis pigmentosa olfactory dysfunction <i>CNGB1</i> |
| url | https://www.mdpi.com/2073-4425/14/4/830 |
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