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A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.

التفاصيل البيبلوغرافية
العنوان: A Novel Look at Dosage-Sensitive Sex Locus Xp21.2 in a Case of 46,XY Partial Gonadal Dysgenesis without NR0B1 Duplication.
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
الوصف
تدمد:1422-0067
DOI:10.3390/ijms24010494