Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing-Reference-Cited by-同舟云学术

Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing

Published:2018-10-30 Issue:1 Volume:3 Page:201-221
ISSN:2472-1972
Container-title:Journal of the Endocrine Society
language:en
Short-container-title:

Author:

Maharaj Avinaash¹^ORCID,Buonocore Federica²^ORCID,Meimaridou Eirini¹^ORCID,Ruiz-Babot Gerard¹^ORCID,Guasti Leonardo¹^ORCID,Peng Hwei-Ming³⁴^ORCID,Capper Cameron P³⁴^ORCID,Burgos-Tirado Neikelyn³⁴^ORCID,Prasad Rathi¹^ORCID,Hughes Claire R¹^ORCID,Maudhoo Ashwini¹^ORCID,Crowne Elizabeth⁵^ORCID,Cheetham Timothy D⁶^ORCID,Brain Caroline E²^ORCID,Suntharalingham Jenifer P²^ORCID,Striglioni Niccolò²,Yuksel Bilgin⁷^ORCID,Gurbuz Fatih⁷^ORCID,Gupta Sangay⁸^ORCID,Lindsay Robert⁹^ORCID,Couch Robert¹⁰^ORCID,Spoudeas Helen A²,Guran Tulay¹¹^ORCID,Johnson Stephanie¹²¹³^ORCID,Fowler Dallas J¹²¹³,Conwell Louise S¹²¹³^ORCID,McInerney-Leo Aideen M¹⁴^ORCID,Drui Delphine¹⁵^ORCID,Cariou Bertrand¹⁶^ORCID,Lopez-Siguero Juan P¹⁷^ORCID,Harris Mark¹²¹³,Duncan Emma L¹⁴¹⁸¹⁹^ORCID,Hindmarsh Peter C²⁰^ORCID,Auchus Richard J³⁴^ORCID,Donaldson Malcolm D²¹^ORCID,Achermann John C²^ORCID,Metherell Louise A¹^ORCID

Affiliation:

1. Centre for Endocrinology, William Harvey Research Institute, Queen Mary University of London, London, United Kingdom

2. Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom

3. Division of Metabolism, Endocrinology, and Diabetes, Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan

4. Department of Pharmacology, University of Michigan, Ann Arbor, Michigan

5. Department of Paediatric Endocrinology and Diabetes, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom

6. Institute of Genetic Medicine, Newcastle University, Newcastle, United Kingdom

7. Department of Pediatric Endocrinology and Diabetes, Cukurova University, Adana, Turkey

8. Department of Pediatrics, Hull Royal Infirmary, Hull, United Kingdom

9. Institute of Cardiovascular and Medical Sciences, British Heart Foundation Glasgow Cardiovascular Research Centre, University of Glasgow, Glasgow, United Kingdom

10. Division of Pediatric Endocrinology, Department of Pediatrics, University of Alberta, Edmonton, Alberta, Canada

11. Department Pediatric Endocrinology and Diabetes, Marmara University, Istanbul, Turkey

12. Lady Cilento Children’s Hospital, Brisbane, Queensland, Australia

13. University of Queensland, Brisbane, Queensland, Australia

14. Institute of Health and Biomedical Innovation, Faculty of Health, Queensland University of Technology, Brisbane, Queensland, Australia

15. Department of Endocrinology, l’Institut du Thorax, Centre Hospitalier Universitaire de Nantes, Nantes, France

16. INSERM UMR 1087, CNRS UMR 6291, l'Institut du Thorax, Université de Nantes, Nantes, France

17. Pediatric Endocrinology Unit, Children’s Hospital, Institute of Biomedical Research in Malaga, Málaga, Spain

18. Department of Endocrinology and Diabetes, Royal Brisbane and Women's Hospital, Brisbane, Queensland, Australia

19. Faculty of Medicine, University of Queensland, Brisbane, Queensland, Australia

20. Department of Paediatrics, University College London Hospitals, London, United Kingdom

21. Section of Child Health, Glasgow University School of Medicine, Glasgow, United Kingdom

Funder

Medical Research Council

Wellcome Trust

Great Ormond Street Hospital Charity

National Institute for Health Research

National Institutes of Health

Mater Medical Research Institute

Publisher

The Endocrine Society

Subject

Endocrinology, Diabetes and Metabolism

Link

http://academic.oup.com/jes/article-pdf/3/1/201/27374178/js.2018-00130.pdf

Reference33 articles.

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3. Rare causes of primary adrenal insufficiency: genetic and clinical characterization of a large nationwide cohort;Guran;J Clin Endocrinol Metab,2016

4. Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc;Tee;J Clin Endocrinol Metab,2013

5. Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X);Parajes;Eur J Endocrinol,2012

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