Deep intronic <i>NIPBL de novo</i> mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients-Reference-Cited by-同舟云学术

Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients

Published:2022-07-23 Issue:12 Volume:43 Page:1882-1897
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Coursimault Juliette¹^ORCID,Cassinari Kévin¹^ORCID,Lecoquierre François¹^ORCID,Quenez Olivier¹^ORCID,Coutant Sophie¹,Derambure Céline¹^ORCID,Vezain Myriam¹^ORCID,Drouot Nathalie¹,Vera Gabriella¹,Schaefer Elise²,Philippe Anaïs²,Doray Bérénice³,Lambert Laëtitia⁴,Ghoumid Jamal⁵^ORCID,Smol Thomas⁶^ORCID,Rama Mélanie⁷,Legendre Marine⁸,Lacombe Didier⁹^ORCID,Fergelot Patricia⁹,Olaso Robert¹⁰,Boland Anne¹⁰,Deleuze Jean‐François¹⁰,Goldenberg Alice¹,Saugier‐Veber Pascale¹^ORCID,Nicolas Gaël¹^ORCID

Affiliation:

1. Normandie Univ, UNIROUEN, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders FHU‐G4 Génomique F‐76000 Rouen France

2. Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA) Hôpitaux Universitaires de Strasbourg Strasbourg France

3. Service de Génétique Médicale Centre Hospitalier Universitaire Félix Guyon Bellepierre Saint Denis France

4. Service de Génétique Clinique, CHRU NANCY, F‐54000 France, UMR INSERM U 1256 N‐GERE F‐54000 Nancy France

5. Université de Lille, ULR7364 RADEME, CHU Lille Clinique de Génétique « Guy Fontaine », and FHU‐G4 Génomique F‐59000 Lille France

6. Université de Lille, ULR7364 RADEME, CHU Lille Institut de Génétique Médicale, and FHU‐G4 Génomique F‐59000 Lille France

7. Institut de Génétique Médicale CHU de Lille France

8. Service de Génétique Médicale CHU de Bordeaux Bordeaux France

9. INSERM U1211, Université de Bordeaux; Génétique Médicale CHU de Bordeaux Bordeaux France

10. Université Paris‐Saclay, CEA Centre National de Recherche en Génomique Humaine (CNRGH) 91057 Evry France

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24438

Reference65 articles.

1. Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange–like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

2. Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndrome

3. Father-to-daughter transmission of Cornelia de Lange syndrome caused by a mutation in the 5′ untranslated region of theNIPBL Gene

4. Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element

5. Clusters of Multiple Mutations: Incidence and Molecular Mechanisms

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