Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants
Pathogenic variants in the <i>MKS1</i> gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report...
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MDPI AG
2021-07-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/11/7/1218 |
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| author | Raffaella Brunetti-Pierri Marianthi Karali Francesco Testa Gerarda Cappuccio Maria Elena Onore Francesca Romano Giuseppe De Rosa Enrico Tedeschi Nicola Brunetti-Pierri Sandro Banfi Francesca Simonelli |
| author_facet | Raffaella Brunetti-Pierri Marianthi Karali Francesco Testa Gerarda Cappuccio Maria Elena Onore Francesca Romano Giuseppe De Rosa Enrico Tedeschi Nicola Brunetti-Pierri Sandro Banfi Francesca Simonelli |
| author_sort | Raffaella Brunetti-Pierri |
| collection | DOAJ |
| description | Pathogenic variants in the <i>MKS1</i> gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in <i>MKS1</i> that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in <i>MKS1</i>. |
| first_indexed | 2024-03-10T09:41:55Z |
| format | Article |
| id | doaj.art-3641195abe1243548b8352b5db2ae1a3 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T09:41:55Z |
| publishDate | 2021-07-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-3641195abe1243548b8352b5db2ae1a32023-11-22T03:34:30ZengMDPI AGDiagnostics2075-44182021-07-01117121810.3390/diagnostics11071218Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating VariantsRaffaella Brunetti-Pierri0Marianthi Karali1Francesco Testa2Gerarda Cappuccio3Maria Elena Onore4Francesca Romano5Giuseppe De Rosa6Enrico Tedeschi7Nicola Brunetti-Pierri8Sandro Banfi9Francesca Simonelli10Eye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Pansini 5, 80131 Naples, ItalyEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Pansini 5, 80131 Naples, ItalyEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Pansini 5, 80131 Naples, ItalyDepartment of Translational Medicine, Federico II University, Via Pansini 5, 80131 Naples, ItalyMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Luigi De Crecchio 7, 80138 Naples, ItalyMedical Genetics, Department of Precision Medicine, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Luigi De Crecchio 7, 80138 Naples, ItalyEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Pansini 5, 80131 Naples, ItalyDepartment of Advanced Biomedical Sciences, Federico II University, Via Pansini 5, 80131 Naples, ItalyTelethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, ItalyTelethon Institute of Genetics and Medicine, Via Campi Flegrei 34, 80078 Pozzuoli, ItalyEye Clinic, Multidisciplinary Department of Medical, Surgical and Dental Sciences, Università degli Studi della Campania ‘Luigi Vanvitelli’, Via Pansini 5, 80131 Naples, ItalyPathogenic variants in the <i>MKS1</i> gene are responsible for a ciliopathy with a wide spectrum of clinical manifestations ranging from Meckel and Joubert syndrome (JBTS) to Bardet-Biedl syndrome, and involving the central nervous system, liver, kidney, skeleton, and retina. We report a 39-year-old male individual presenting with isolated Retinitis Pigmentosa (RP), as assessed by full ophthalmological evaluation including Best-Corrected Visual Acuity measurements, fundus examination, Goldmann Visual Field test, and full-field Electroretinography. A clinical exome identified biallelic nonsense variants in <i>MKS1</i> that prompted post-genotyping investigations for systemic abnormalities of ciliopathy. Brain magnetic resonance imaging revealed malformations of the posterior cranial fossa with the ‘molar tooth sign’ and cerebellar folia dysplasia, which are both distinctive features of JBTS. No other organ or skeletal abnormalities were detected. This case illustrates the power of clinical exome for the identification of the mildest forms of a disease spectrum, such as a mild JBTS with RP in the presented case of an individual carrying biallelic truncating variants in <i>MKS1</i>.https://www.mdpi.com/2075-4418/11/7/1218<i>MKS1</i>autosomal recessive Retinitis PigmentosaJoubert syndromephenotype extension |
| spellingShingle | Raffaella Brunetti-Pierri Marianthi Karali Francesco Testa Gerarda Cappuccio Maria Elena Onore Francesca Romano Giuseppe De Rosa Enrico Tedeschi Nicola Brunetti-Pierri Sandro Banfi Francesca Simonelli Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants Diagnostics <i>MKS1</i> autosomal recessive Retinitis Pigmentosa Joubert syndrome phenotype extension |
| title | Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants |
| title_full | Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants |
| title_fullStr | Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants |
| title_full_unstemmed | Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants |
| title_short | Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic <i>MKS1</i> Truncating Variants |
| title_sort | mild clinical presentation of joubert syndrome in a male adult carrying biallelic i mks1 i truncating variants |
| topic | <i>MKS1</i> autosomal recessive Retinitis Pigmentosa Joubert syndrome phenotype extension |
| url | https://www.mdpi.com/2075-4418/11/7/1218 |
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