Production and characterization of human induced pluripotent stem cells (iPSC) CSSi007-A (4383) from Joubert Syndrome

There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

Abstract

Joubert syndrome (JS) is an autosomal recessive neurodevelopmental disorder, characterized by congenital cerebellar and brainstem defects, belonging to the group of disorders known as ciliopathies, which are caused by mutations in genes encoding proteins of the primary cilium and basal body. Human induced pluripotent stem cells (hiPSCs) from a patient carrying a homozygous missense mutation (c.2168G > A) in AHI1, the first gene to be associated with JS, were produced using a virus-free protocol.

Related collections

Most cited references 1

Record: found
Abstract: found
Article: not found

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

G Barrano, Enza M. Valente, Ignacio P. Castroviejo … (2006)

Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.

0 comments Cited 30 times – based on 0 reviews      Review now

Bookmark

All references

Author and article information

Contributors

Jessica Rosati

Journal

Journal ID (nlm-ta): Stem Cell Res

Journal ID (iso-abbrev): Stem Cell Res

Title: Stem Cell Research

Publisher: Elsevier

ISSN (Print): 1873-5061

ISSN (Electronic): 1876-7753

Publication date PMC-release: 1 July 2019

Publication date (Print): July 2019

Volume: 38

Electronic Location Identifier: 101480

Affiliations

[a ]Fondazione IRCCS Casa Sollievo della Sofferenza, Cellular Reprogramming Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy

[b ]Neurogenetics Unit, IRCCS Santa Lucia Foundation, Rome 00143, Italy

[c ]Fondazione IRCCS Casa Sollievo della Sofferenza, Medical Genetics Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy

[d ]Biotechnology and Bioscience Department, Bicocca University, Piazza della Scienza 2, 20126 Milan, Italy

[e ]IRCCS Casa Sollievo della Sofferenza, Division of Internal Medicine and Chronobiology Unit, Viale dei Cappuccini, 71013 San Giovanni Rotondo, Foggia, Italy

[f ]Department of Molecular Medicine, University of Pavia, via Forlanini 14, 27100 Pavia, Italy

Author notes

[* ]Corresponding author. j.rosati@ 123456css-mendel.it

Article

Publisher ID: S1873-5061(19)30110-2 Publisher ID: 101480

DOI: 10.1016/j.scr.2019.101480

PMC ID: 6617992

PubMed ID: 31202121

SO-VID: 4b811a7f-ab69-4164-b274-34b03c97f8c7

License:

This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).

History

Date received : 26 February 2019

Date revision received : 21 May 2019

Date accepted : 1 June 2019

Comments

Comment on this article

scite_

Cited by 1

Patient-derived cellular models of primary ciliopathies
Authors: Lidia Pollara, Virginie Sottile, Enza Maria Valente

See all cited by

Most referenced authors 73

See all reference authors

- Version 1