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Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants

Pathogenic variants in the MKS1 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...

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Autores principales: Brunetti-Pierri, Raffaella, Karali, Marianthi, Testa, Francesco, Cappuccio, Gerarda, Onore, Maria Elena, Romano, Francesca, De Rosa, Giuseppe, Tedeschi, Enrico, Brunetti-Pierri, Nicola, Banfi, Sandro, Simonelli, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303764/
https://www.ncbi.nlm.nih.gov/pubmed/34359301
http://dx.doi.org/10.3390/diagnostics11071218
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author Brunetti-Pierri, Raffaella
Karali, Marianthi
Testa, Francesco
Cappuccio, Gerarda
Onore, Maria Elena
Romano, Francesca
De Rosa, Giuseppe
Tedeschi, Enrico
Brunetti-Pierri, Nicola
Banfi, Sandro
Simonelli, Francesca
author_facet Brunetti-Pierri, Raffaella
Karali, Marianthi
Testa, Francesco
Cappuccio, Gerarda
Onore, Maria Elena
Romano, Francesca
De Rosa, Giuseppe
Tedeschi, Enrico
Brunetti-Pierri, Nicola
Banfi, Sandro
Simonelli, Francesca
author_sort Brunetti-Pierri, Raffaella
collection PubMed
description Pathogenic variants in the MKS1 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 MKS1 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 MKS1.
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spelling pubmed-83037642021-07-25 Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants Brunetti-Pierri, Raffaella Karali, Marianthi Testa, Francesco Cappuccio, Gerarda Onore, Maria Elena Romano, Francesca De Rosa, Giuseppe Tedeschi, Enrico Brunetti-Pierri, Nicola Banfi, Sandro Simonelli, Francesca Diagnostics (Basel) Case Report Pathogenic variants in the MKS1 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 MKS1 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 MKS1. MDPI 2021-07-06 /pmc/articles/PMC8303764/ /pubmed/34359301 http://dx.doi.org/10.3390/diagnostics11071218 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Brunetti-Pierri, Raffaella
Karali, Marianthi
Testa, Francesco
Cappuccio, Gerarda
Onore, Maria Elena
Romano, Francesca
De Rosa, Giuseppe
Tedeschi, Enrico
Brunetti-Pierri, Nicola
Banfi, Sandro
Simonelli, Francesca
Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
title Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
title_full Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
title_fullStr Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
title_full_unstemmed Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
title_short Mild Clinical Presentation of Joubert Syndrome in a Male Adult Carrying Biallelic MKS1 Truncating Variants
title_sort mild clinical presentation of joubert syndrome in a male adult carrying biallelic mks1 truncating variants
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303764/
https://www.ncbi.nlm.nih.gov/pubmed/34359301
http://dx.doi.org/10.3390/diagnostics11071218
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