TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A-Reference-Cited by-同舟云学术

TAR syndrome: Clinical and molecular characterization of a cohort of 26 patients and description of novel noncoding variants of RBM8A

Published:2020-04-06 Issue:7 Volume:41 Page:1220-1225
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Boussion Simon¹²,Escande Fabienne²³,Jourdain Anne‐Sophie²³,Smol Thomas²⁴^ORCID,Brunelle Perrine²³,Duhamel Céline²,Alembik Yves⁵,Attié‐Bitach Tania⁶^ORCID,Baujat Geneviève⁷,Bazin Anne⁸,Bonnière Maryse⁶,Carassou Philippe⁹,Carles Dominique¹⁰,Devisme Louise²¹¹,Goizet Cyril¹²,Goldenberg Alice¹³,Grotto Sarah¹⁴,Guichet Agnès¹⁵,Jouk Pierre‐Simon¹⁶,Loeuillet Laurence¹⁷,Mechler Charlotte¹⁸,Michot Caroline⁷,Pelluard Fanny¹⁹,Putoux Audrey²⁰²¹,Whalen Sandra²²,Ghoumid Jamal¹²^ORCID,Manouvrier‐Hanu Sylvie¹²,Petit Florence¹²^ORCID

Affiliation:

1. Clinical Genetics Department, Reference Center for Developmental AnomaliesCHU Lille Lille France

2. EA7364‐RADEMELille University Lille France

3. Biochemistry and Molecular Oncology LaboratoryCHU Lille Lille France

4. Medical Genetics DepartmentCHU Lille Lille France

5. Medical Genetics DepartmentCHU Strasbourg Strasbourg France

6. Histology, Embryology and Cytogenetics Department, Necker‐Enfants Malades HospitalAP‐HP Paris France

7. Clinical Genetics Department, Necker–Enfants Malades Hospital, AP‐HP, INSERM UMRIMAGINE Institute Paris France

8. Antenatal Diagnosis DepartmentRené Dubois Hospital Pontoise France

9. Hematology DepartmentCHR Metz‐Thionville Metz France

10. Anatomo‐Pathology DepartmentCHU Bordeaux Bordeaux France

11. Anatomo‐Pathology InstituteCHU Lille Lille France

12. Medical Genetics Department, CHU Bordeaux, MRGM Laboratory, INSERMBordeaux University Bordeaux France

13. Genetics Department, Reference Center for Developmental AnomaliesCHU Rouen Rouen France

14. Genetics Department, Robert Debré HospitalAP‐HP Paris France

15. Genetics DepartmentCHU Angers Angers France

16. Genetics DepartmentCHU Grenoble‐Alpes Grenoble France

17. Anatomo‐Cytopathology Department, Cochin HospitalAP‐HP Paris France

18. Foetopathology Department, Robert Debré HospitalAP‐HP Paris France

19. INSERM U1053‐UMR BaRITOn, Foetopathology Department, Pellegrin HospitalCHU Bordeaux Bordeaux France

20. Genetics DepartmentHospices Civils de Lyon Lyon France

21. GENDEV Team, CRNL, INSERM U1028, CNRS UMR 5292UCBL1 Lyon France

22. Clinical Genetics, Reference Center for Developmental Anomalies, Armand Trousseau HospitalAP‐HP Paris France

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24021

Reference35 articles.

1. New insights into the genetic basis of TAR (thrombocytopenia-absent radii) syndrome

2. Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome

3. Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing

4. Prenatal diagnosis and post-mortem examination in a fetus with thrombocytopenia-absent radius (TAR) syndrome due to compound heterozygosity for a 1q21.1 microdeletion and a RBM8A hypomorphic allele: a case report

5. NMD factors UPF2 and UPF3 bridge UPF1 to the exon junction complex and stimulate its RNA helicase activity

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