Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. In this review we investigate the possible link between Wnt pathway disruption and brain abnormalities in Cornelia de Lange Syndrome as such molecular impairment could lead to an abnormal embryonic development resulting in brain abnormalities (i.e. microcephaly, cerebellar hypoplasia, abnormal cortical development) in patients with Cornelia de Lange Syndrome.

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome / L. Avagliano, P. Grazioli, M. Mariani, G.P. Bulfamante, S. Angelo, V. Massa. - In: ORPHANET JOURNAL OF RARE DISEASES. - ISSN 1750-1172. - 12:1(2017 Nov). [10.1186/s13023-017-0723-0]

Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

L. Avagliano
Primo
;
P. Grazioli
Secondo
;
M. Mariani;G.P. Bulfamante;V. Massa
Ultimo
2017

Abstract

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a fundamental role in central nervous system development and it has been shown that Wnt pathway is disrupted in CdLS animal models and patients cells. In this review we investigate the possible link between Wnt pathway disruption and brain abnormalities in Cornelia de Lange Syndrome as such molecular impairment could lead to an abnormal embryonic development resulting in brain abnormalities (i.e. microcephaly, cerebellar hypoplasia, abnormal cortical development) in patients with Cornelia de Lange Syndrome.
brain abnormalities; Cornelia de Lange syndrome; Wnt pathway; genetics (clinical); pharmacology (medical)
Settore BIO/13 - Biologia Applicata
   DISSECTING CANONICAL WNT PATHWAY CONTRIBUTION TO CORNELIA DE LANGE SYNDROME PATHOGENESIS
   FONDAZIONE CARIPLO
   2015-0783
nov-2017
Article (author)
File in questo prodotto:
File Dimensione Formato  
s13023-017-0723-0 (1).pdf

accesso aperto

Tipologia: Publisher's version/PDF
Dimensione 1.04 MB
Formato Adobe PDF
1.04 MB Adobe PDF Visualizza/Apri
Pubblicazioni consigliate

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/533620
Citazioni
  • ???jsp.display-item.citation.pmc??? 7
  • Scopus 14
  • ???jsp.display-item.citation.isi??? 13
social impact