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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sciendo
2023
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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. |
format | Online Article Text |
id | pubmed-10032320 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Sciendo |
record_format | MEDLINE/PubMed |
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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