Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene-Reference-Cited by-同舟云学术

Common atrium/atrioventricular canal defect and postaxial polydactyly: A mild clinical subtype of Ellis‐van Creveld syndrome caused by hypomorphic mutations in the EVC gene

Published:2020-10-14 Issue:12 Volume:41 Page:2087-2093
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Piceci‐Sparascio Francesca¹²,Palencia‐Campos Adrian³⁴,Soto‐Bielicka Patricia³,D'Anzi Angela⁵,Guida Valentina¹,Rosati Jessica⁵,Caparros‐Martin Jose A.³⁴,Torrente Isabella¹,D'Asdia M. Cecilia¹,Versacci Paolo⁶,Briuglia Silvana⁷,Lapunzina Pablo⁴⁸,Tartaglia Marco⁹^ORCID,Marino Bruno⁶,Digilio M. Cristina⁹,Ruiz‐Perez Victor L.³⁴⁸^ORCID,De Luca Alessandro¹^ORCID

Affiliation:

1. Medical Genetics Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

2. Department of Experimental Medicine Sapienza University of Rome Rome Italy

3. Instituto de Investigaciones Biomédicas de Madrid Consejo Superior de Investigaciones Científicas‐Universidad Autónoma de Madrid Madrid Spain

4. CIBER de enfermedades Raras (CIBERER) Insitituto de Salud Carlos III Madrid Spain

5. Cellular Reprogramming Unit Fondazione IRCCS Casa Sollievo della Sofferenza San Giovanni Rotondo Italy

6. Department of Pediatrics Università Sapienza Rome Italy

7. Department of Human Pathology of Adult and Childhood “Gaetano Barresi”, Unit of Emergency Pediatrics University of Messina Messina Italy

8. Instituto de Genética Médica y Molecular (INGEMM)‐IdiPAZm Hospital Universitario La Paz Universidad Autónoma Madrid Spain

9. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù IRCCS Rome Italy

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24112

Reference30 articles.

1. Evc2 is a positive modulator of Hedgehog signalling that interacts with Evc at the cilia membrane and is also found in the nucleus

2. The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia

3. Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis

4. Atrioventricular canal defect as partial expression of heterotaxia in patients with Bardet-Biedl syndrome

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3. Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis;Journal of Medical Genetics;2024-03-26

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5. Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions;Genetics in Medicine Open;2023