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Joubert syndrome: Molecular basis and treatment

Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are hypotonia with lateral ataxia, intellectual disability...

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Autores principales: Spahiu, Lidvana, Behluli, Emir, Grajçevci-Uka, Violeta, Liehr, Thomas, Temaj, Gazmend
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sciendo 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032320/
https://www.ncbi.nlm.nih.gov/pubmed/36803942
http://dx.doi.org/10.34763/jmotherandchild.20222601.d-22-00034
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author Spahiu, Lidvana
Behluli, Emir
Grajçevci-Uka, Violeta
Liehr, Thomas
Temaj, Gazmend
author_facet Spahiu, Lidvana
Behluli, Emir
Grajçevci-Uka, Violeta
Liehr, Thomas
Temaj, Gazmend
author_sort Spahiu, Lidvana
collection PubMed
description Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic characteristics are typical of many disorders involving primary cilium aberrations, providing a significant overlap between JS and other ciliopathies such as nephronophthisis, Meckel syndrome, and Bardet-Biedl syndrome. This review will describe some characteristics of JS associated with changes in 35 genes, and will also address subtypes of JS, clinical diagnosis, and the future of therapeutic developments.
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spelling pubmed-100323202023-03-23 Joubert syndrome: Molecular basis and treatment Spahiu, Lidvana Behluli, Emir Grajçevci-Uka, Violeta Liehr, Thomas Temaj, Gazmend J Mother Child Review Articles Joubert syndrome (JS; MIM PS213300) is a rare genetic autosomal recessive disease characterized by cerebellar vermis hypoplasia, a distinctive malformation of the cerebellum and the so-called “molar tooth sign.” Other characteristic features are hypotonia with lateral ataxia, intellectual disability/mental retardation, oculomotor apraxia, retinal dystrophy, abnormalities in the respiratory system, renal cysts, hepatic fibrosis, and skeletal changes. Such pleiotropic characteristics are typical of many disorders involving primary cilium aberrations, providing a significant overlap between JS and other ciliopathies such as nephronophthisis, Meckel syndrome, and Bardet-Biedl syndrome. This review will describe some characteristics of JS associated with changes in 35 genes, and will also address subtypes of JS, clinical diagnosis, and the future of therapeutic developments. Sciendo 2023-02-22 /pmc/articles/PMC10032320/ /pubmed/36803942 http://dx.doi.org/10.34763/jmotherandchild.20222601.d-22-00034 Text en © 2022 Lidvana Spahiu et al., published by Sciendo https://creativecommons.org/licenses/by/4.0/This work is licensed under the Creative Commons Attribution 4.0 International License.
spellingShingle Review Articles
Spahiu, Lidvana
Behluli, Emir
Grajçevci-Uka, Violeta
Liehr, Thomas
Temaj, Gazmend
Joubert syndrome: Molecular basis and treatment
title Joubert syndrome: Molecular basis and treatment
title_full Joubert syndrome: Molecular basis and treatment
title_fullStr Joubert syndrome: Molecular basis and treatment
title_full_unstemmed Joubert syndrome: Molecular basis and treatment
title_short Joubert syndrome: Molecular basis and treatment
title_sort joubert syndrome: molecular basis and treatment
topic Review Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10032320/
https://www.ncbi.nlm.nih.gov/pubmed/36803942
http://dx.doi.org/10.34763/jmotherandchild.20222601.d-22-00034
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