Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach

Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and...

Descripción completa

Detalles Bibliográficos
Autores principales: Sarogni, Patrizia, Pallotta, Maria M, Musio, Antonio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2020
Materias:
Developmental Defects
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231464/
https://www.ncbi.nlm.nih.gov/pubmed/31704779
http://dx.doi.org/10.1136/jmedgenet-2019-106277
_version_ 1783535196174286848
author Sarogni, Patrizia
Pallotta, Maria M
Musio, Antonio
author_facet Sarogni, Patrizia
Pallotta, Maria M
Musio, Antonio
author_sort Sarogni, Patrizia
collection PubMed
description Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches.
format Online
Article
Text
id pubmed-7231464
institution National Center for Biotechnology Information
language English
publishDate 2020
publisher BMJ Publishing Group
record_format MEDLINE/PubMed
spelling pubmed-72314642020-05-18 Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach Sarogni, Patrizia Pallotta, Maria M Musio, Antonio J Med Genet Developmental Defects Cornelia de Lange syndrome (CdLS) is a severe genetic disorder characterised by multisystemic malformations. CdLS is due to pathogenetic variants in NIPBL, SMC1A, SMC3, RAD21 and HDAC8 genes which belong to the cohesin pathway. Cohesin plays a pivotal role in chromatid cohesion, gene expression, and DNA repair. In this review, we will discuss how perturbations in those biological processes contribute to CdLS phenotype and will emphasise the state-of-art of CdLS therapeutic approaches. BMJ Publishing Group 2020-05 2019-11-08 /pmc/articles/PMC7231464/ /pubmed/31704779 http://dx.doi.org/10.1136/jmedgenet-2019-106277 Text en © Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.
spellingShingle Developmental Defects
Sarogni, Patrizia
Pallotta, Maria M
Musio, Antonio
Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
title Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
title_full Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
title_fullStr Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
title_full_unstemmed Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
title_short Cornelia de Lange syndrome: from molecular diagnosis to therapeutic approach
title_sort cornelia de lange syndrome: from molecular diagnosis to therapeutic approach
topic Developmental Defects
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7231464/
https://www.ncbi.nlm.nih.gov/pubmed/31704779
http://dx.doi.org/10.1136/jmedgenet-2019-106277
work_keys_str_mv AT sarognipatrizia corneliadelangesyndromefrommoleculardiagnosistotherapeuticapproach
AT pallottamariam corneliadelangesyndromefrommoleculardiagnosistotherapeuticapproach
AT musioantonio corneliadelangesyndromefrommoleculardiagnosistotherapeuticapproach

Ejemplares similares