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;P. Grazioli;MARIANI, MILENA;G.P. Bulfamante;V. Massa
2017-11

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
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/533620
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