دورية أكاديمية
Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development.
| العنوان: | Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development. |
|---|---|
| المؤلفون: | Jiang W; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Yu J; Meishan Women and Children's Hospital, Alliance Hospital of West China Second University Hospital, Sichuan University, Meishan, China., Mao Y; Department of Pediatric Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China., Tang Y; Department of Pediatric Surgery, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China., Cao L; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Du Q; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Li J; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China., Yang J; Sichuan Provincial Key Laboratory for Human Disease Gene Study, Centre for Medical Genetics, Sichuan Academy of Medical Sciences, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.; Research Unit for Blindness Prevention of Chinese Academy of Medical Sciences (2019RU026), Sichuan Academy of Medical Sciences, Chengdu, China. |
| المصدر: | Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 May; Vol. 12 (5), pp. e2453. |
| نوع المنشور: | Journal Article; Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN: 2324-9269 (Electronic) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [Hoboken, NJ] : John Wiley & Sons, [2013]- |
| مواضيع طبية MeSH: | Disorder of Sex Development, 46,XY*/genetics , Disorder of Sex Development, 46,XY*/pathology , DEAD-box RNA Helicases*/genetics , DEAD-box RNA Helicases*/metabolism, Humans ; Male ; Female ; HEK293 Cells |
| مستخلص: | Background: 46,XY sex reversal 11 (SRXY11) [OMIM#273250] is characterized by genital ambiguity that may range from mild male genital defects to gonadal sex reversal in severe cases. DHX37 is an RNA helicase that has recently been reported as a cause of SRXY11. So far, a total of 21 variants in DHX37 have been reported in 58 cases with 46,XY disorders of sex development (DSD). Methods: Whole exome sequencing (WES) was conducted to screen for variations in patients with 46,XY DSD. The subcellular localization of mutant DHX37 proteins was detected by immunofluorescence. And the levels of mutant DHX37 proteins were detected via Western blotting. Results: A novel pathogenic variant of DHX37 was identified in a patient with 46,XY DSD c.2012G > C (p.Arg671Thr). Bioinformatics analysis showed that the protein function of the variant was impaired. Compared with the structure of the wild-type DHX37 protein, the number of hydrogen bonds and interacting amino acids of the variant protein were changed to varying degrees. In vitro assays revealed that the variant had no significant effect on the intracellular localization of the protein but significantly reduced the expression level of the protein. Conclusions: Our finding further expands the spectrum of the DHX37 variant and could assist in the molecular diagnosis of 46,XY DSD patients. (© 2024 The Author(s). Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | 2022JDZH0029 Sichuan Province Research Fund for the Transfer of Scientific and Technological Achievements; 2022-I2M-C&T-B-117 the Special Fund for Clinical Research and Translational Medicine from the Chinese Academy of Medical Sciences |
| فهرسة مساهمة: | Keywords: DHX37; 46,XY DSD; WES; disorders of sex development |
| تواريخ الأحداث: | Date Created: 20240521 Date Completed: 20240521 Latest Revision: 20240523 |
| رمز التحديث: | 20240523 |
| مُعرف محوري في PubMed: | PMC11106588 |
| DOI: | 10.1002/mgg3.2453 |
| PMID: | 38769888 |
| قاعدة البيانات: | MEDLINE |
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