تقرير
A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
العنوان: | A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication. |
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المؤلفون: | Francese-Santos AP; Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil., Meinel JA; Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany., Piveta CSC; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil., Andrade JGR; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.; Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil., Barros BA; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.; Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil., Fabbri-Scallet H; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil., Gil-da-Silva-Lopes VL; Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil., Guerra-Junior G; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.; Department of Pediatrics, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil., Künstner A; Group of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, University of Lübeck, 23562 Lübeck, Germany., Busch H; Group of Medical Systems Biology, Lübeck Institute of Experimental Dermatology, University of Lübeck, 23562 Lübeck, Germany., Hiort O; Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany., de Mello MP; Molecular Biology and Genetic Engineering Center, State University of Campinas (UNICAMP), Campinas 13083-875, SP, Brazil.; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil., Werner R; Department of Pediatrics and Adolescent Medicine, Division of Paediatric Endocrinology and Diabetes, University of Lübeck, 23562 Lübeck, Germany.; Institute of Molecular Medicine, University of Lübeck, 23562 Lübeck, Germany., Maciel-Guerra AT; Department of Translational Medicine, State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil.; Interdisciplinary Group for the Study of Sex Determination and Differentiation (GIEDDS), State University of Campinas (UNICAMP), Campinas 13083-888, SP, Brazil. |
المصدر: | International journal of molecular sciences [Int J Mol Sci] 2022 Dec 28; Vol. 24 (1). Date of Electronic Publication: 2022 Dec 28. |
نوع المنشور: | Case Reports |
اللغة: | English |
بيانات الدورية: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: Basel, Switzerland : MDPI, [2000- |
مواضيع طبية MeSH: | Gonadal Dysgenesis, 46,XY*/genetics, Female ; Humans ; DAX-1 Orphan Nuclear Receptor/genetics |
مستخلص: | A region of 160 kb at Xp21.2 has been defined as dosage-sensitive sex reversal (DSS) and includes the NR0B1 gene, considered to be the candidate gene involved in XY gonadal dysgenesis if overexpressed. We describe a girl with 46,XY partial gonadal dysgenesis carrying a 297 kb duplication at Xp21.2 upstream of NR0B1 initially detected by chromosomal microarray analysis. Fine mapping of the breakpoints by whole-genome sequencing showed a tandem duplication of TASL (CXorf21) , GK and partially TAB3 , upstream of NR0B1 . This is the first description of an Xp21.2 duplication upstream of NR0B1 associated with 46,XY partial gonadal dysgenesis. |
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معلومات مُعتمدة: | 001 Coordenação de Aperfeicoamento de Pessoal de Nível Superior; 2015/04763-4 São Paulo Research Foundation |
فهرسة مساهمة: | Keywords: 46,XY partial gonadal dysgenesis; NR0B1; Xp21.2 duplication; chromosome microarray analysis; disorders of sex development; whole-genome sequencing |
المشرفين على المادة: | 0 (DAX-1 Orphan Nuclear Receptor) 0 (NR0B1 protein, human) |
تواريخ الأحداث: | Date Created: 20230108 Date Completed: 20230111 Latest Revision: 20230111 |
رمز التحديث: | 20231215 |
مُعرف محوري في PubMed: | PMC9820669 |
DOI: | 10.3390/ijms24010494 |
PMID: | 36613932 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1422-0067 |
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DOI: | 10.3390/ijms24010494 |