Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature-Reference-Cited by-同舟云学术

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Published:2018-09-08 Issue:11 Volume:176 Page:2259-2275
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Hemati Parisa¹^ORCID,Revah-Politi Anya¹^ORCID,Bassan Haim²,Petrovski Slavé¹³,Bilancia Colleen G.⁴,Ramsey Keri⁵,Griffin Nicole G.¹,Bier Louise¹,Cho Megan T.⁶,Rosello Monica⁷,Lynch Sally Ann⁸,Colombo Sophie¹,Weber Astrid⁹,Haug Marte¹⁰,Heinzen Erin L.¹,Sands Tristan T.¹,Narayanan Vinodh⁵,Primiano Michelle¹¹,Aggarwal Vimla S.¹⁴,Millan Francisca⁶,Sattler-Holtrop Shannon G.¹²¹³,Caro-Llopis Alfonso⁷,Pillar Nir²,Baker Janice¹⁴,Freedman Rebecca¹⁵¹⁶,Kroes Hester Y.¹⁷,Sacharow Stephanie¹⁸,Stong Nick¹,Lapunzina Pablo¹⁹²⁰,Schneider Michael C.¹²²¹,Mendelsohn Nancy J.¹⁴,Singleton Amanda⁶,Loik Ramey Valerie¹⁸,Wou Karen²²,Kuzminsky Alla²³,Monfort Sandra⁷,Weisz Hubshman Monika³²⁴²⁵,Doyle Samantha⁸,Iglesias Alejandro²²,Martinez Francisco⁷,Mckenzie Fiona¹⁵¹⁶,Orellana Carmen⁷,van Gassen Koen L.I.¹⁷,Palomares Maria¹⁹²⁰,Bazak Lily²,Lee Andy²⁶,Bircher Ana²⁷,Basel-Vanagaite Lina²⁴²⁸²⁵²⁹,Hafström Maria³⁰³¹,Houge Gunnar³²^ORCID,Goldstein David B.¹,Anyane-Yeboa Kwame²²^ORCID, ,

Affiliation:

1. Institute for Genomic Medicine; Columbia University Medical Center; New York New York

2. Pediatric Neurology & Development Center, Assaf Harofe Medical Center, Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

3. Department of Medicine, Austin Health and Royal Melbourne Hospital; University of Melbourne; Melbourne Victoria Australia

4. Department of Pathology and Cell Biology; Columbia University Medical Center; New York New York

5. Center for Rare Childhood Disorders; Translational Genomics Research Institute; Phoenix Arizona

6. GeneDx; Gaithersburg Maryland

7. Unidad de Genetica; Hospital Universitario y Politecnico La Fe; Valencia Spain

8. Temple Street Children's University Hospital; Dublin Ireland

9. Department of Clinical Genetics; Liverpool Women's Hospital; Liverpool United Kingdom

10. Department of Medical Genetics; St. Olav's University Hospital; Trondheim Norway

11. Department of Pediatrics; Children's Hospital of New York-Presbyterian; New York New York

12. Carle Physician Group; Urbana Illinois

13. Department of Genetics; Le Bonheur Children's Hospital; Memphis Tennessee

14. Genomics Medicine Program; Children's Hospitals and Clinics of Minnesota; Minneapolis Minnesota

15. Genetic Services of Western Australia, Department of Health; Government of Western Australia; Perth Western Australia Australia

16. School of Paediatrics and Child Health; University of Western Australia; Perth Western Australia Australia

17. Department of Genetics; University Medical Center Utrecht; The Netherlands

18. Division of Genetics and Genomics; Boston Children's Hospital; Boston Massachusetts

19. INGEMM, Instituto de Genética Médica y Molecular, IdiPAZ; Hospital Universitario la Paz, Universidad Autónoma de Madrid (UAM); Madrid Spain

20. Centro de Investigación Biomédica en Red de Enfermedades Raras, CIBERER; ISCIII; Madrid Spain

21. Biochemical Genetics, Neurology Division; St Christopher's Hospital for Children; Philadelphia Pennsylvania

22. Division of Clinical Genetics, Department of Pediatrics; Columbia University Medical Center (CUMC); New York New York

23. Child development Center; Clalit Health Service; Netanya Israel

24. Raphael Recanati Genetics Institute; Rabin Medical Center, Beilinson Campus; Petah Tikva Israel

25. Pediatric Genetics Unit; Schneider Children's Medical Center of Israel; Petah Tikva Israel

26. Brentwood Children's Clinic; Brentwood Tennessee

27. Inner Vision Women's Ultrasound & Genetics; Nashville Tennessee

28. Sackler Faculty of Medicine; Tel Aviv University; Tel Aviv Israel

29. Felsenstein Medical Research Center; Rabin Medical Center; Petah Tikva Israel

30. Department of Pediatrics; St Olav's Hospital; Trondheim Norway

31. Department of Laboratory Medicine, Children's and Women's Health; Norwegian University of Science and Technology; Trondheim Norway

32. Center for Medical Genetics and Molecular Medicine; Haukeland University Hospital; Bergen Norway

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40472/fullpdf

Reference17 articles.

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4. DECIPHER: Database of chromosomal imbalance and phenotype in humans using Ensembl resources;Firth;American Journal of Human Genetics,2009

5. Molecular basis for interactions of G protein betagamma subunits with effectors;Ford;Science,1998

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