<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>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.</p></abstract>

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.

Joubert syndrome: Molecular basis and treatment

Journal of Mother and Child

This work is licensed under the Creative Commons Attribution 4.0 International License.

{"article-title":"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...

Joubert syndrome: Molecular basis and treatment

Article Category: Review articles

Pubblicato online: 22 feb 2023

Pagine: 118 - 123

Ricevuto: 13 lug 2022

Accettato: 30 set 2022

DOI: https://doi.org/10.34763/jmotherandchild.20222601.d-22-00034

Parole chiave
Joubert syndrome (JS), clinical and molecular diagnosis, ciliopathies, therapeutic options

© 2022 Lidvana Spahiu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Joubert syndrome: Molecular basis and treatment

Article Category: Review articles

Pubblicato online: 22 feb 2023

Pagine: 118 - 123

Ricevuto: 13 lug 2022

Accettato: 30 set 2022

DOI: https://doi.org/10.34763/jmotherandchild.20222601.d-22-00034

Parole chiaveJoubert syndrome (JS), clinical and molecular diagnosis, ciliopathies, therapeutic options

© 2022 Lidvana Spahiu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution 4.0 International License.

Parole chiave
Joubert syndrome (JS), clinical and molecular diagnosis, ciliopathies, therapeutic options