Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development-Reference-Cited by-同舟云学术

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development

Published:2017-11-02 Issue:1 Volume:39 Page:124-139
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Robevska Gorjana¹,van den Bergen Jocelyn A.¹,Ohnesorg Thomas¹,Eggers Stefanie¹,Hanna Chloe¹²,Hersmus Remko³,Thompson Elizabeth M.⁴⁵,Baxendale Anne⁴,Verge Charles F.⁶⁷,Lafferty Antony R.⁸⁹,Marzuki Nanis S.¹⁰,Santosa Ardy¹¹,Listyasari Nurin A.¹²,Riedl Stefan¹³¹⁴,Warne Garry¹²¹⁵,Looijenga Leendert³,Faradz Sultana¹²,Ayers Katie L.¹¹⁵^ORCID,Sinclair Andrew H.¹¹⁵

Affiliation:

1. Murdoch Children's Research Institute; Melbourne Australia

2. Royal Children's Hospital; Melbourne Australia

3. Department of Pathology, Josephine Nefkens Institute; Erasmus University Medical Centre; Rotterdam The Netherlands

4. SA Clinical Genetics Service; SA Pathology at the Women's and Children's Hospital; Adelaide Australia

5. School of Medicine; University of Adelaide; Adelaide Australia

6. Sydney Children's Hospital; Sydney Australia

7. School of Women's and Children's Health; UNSW; Sydney Australia

8. Centenary Hospital for Women and Children; Canberra Australia

9. ANU Medical School; Canberra Australia

10. Eijkman Institute for Molecular Biology; Jakarta Indonesia

11. Division of Urology; Department of Surgery, Dr. Kariadi Hospital; Semarang Indonesia

12. Division of Human Genetics; Centre for Biomedical Research Faculty of Medicine Diponegoro University (FMDU); Semarang Indonesia

13. St Anna Children's Hospital; Department of Paediatrics; Medical University of Vienna; Wien Austria

14. Division of Paediatric Pulmology; Allergology; and Endocrinology; Department of Paediatrics; Medical University of Vienna; Wien Austria

15. Department of Paediatrics; University of Melbourne; Melbourne Australia

Funder

National Health and Medical Research Council

Ian Potter Centre for Genomics and Personalised Medicine

Victorian Government's Operational Infrastructure Support Program

the National Health and Medical Research Council Australia Independent Medical Research Institutes Infrastructure Support Scheme

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference57 articles.

1. A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans;Achermann;Nature Genetics,1999

2. Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias;Allali;PLoS One,2011

3. Targeted mutagenesis of the endogenous mouse;Arango;Cell,1999

4. Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development;Baetens;Orphanet Journal of Rare Diseases,2014

5. Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development;Barbaro;Sexual Development,2011

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1. Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development;eBioMedicine;2024-01

2. Long‐read genome sequencing reveals a novel intronic retroelement insertion in NR5A1 associated with 46,XY differences of sexual development;American Journal of Medical Genetics Part A;2023-12-22

3. A Novel Variant in NR5A1 Presenting as 46,XY Difference of Sex Development;JCEM Case Reports;2023-09-01

4. Genetic reanalysis of patients with a difference of sex development carrying the NR5A1/SF-1 variant p.Gly146Ala has discovered other likely disease-causing variations;PLOS ONE;2023-07-11

5. TheNR5A1/SF-1variant p.Gly146Ala cannot explain the phenotype of individuals with a difference of sex development;2023-02-17