دورية أكاديمية
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
العنوان: | Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development. |
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المؤلفون: | Rjiba K; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Higher Institute of Biotechnology Monastir, University of Monastir, Monastir, Tunisia.; Unité de Services Communs en Génétique Humaine, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia.; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France., Mougou-Zerelli S; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Unité de Services Communs en Génétique Humaine, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia., Hamida IH; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Saad G; Department of Endocrinology, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Khadija B; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Higher Institute of Biotechnology Monastir, University of Monastir, Monastir, Tunisia.; Unité de Services Communs en Génétique Humaine, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia., Jelloul A; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Slimani W; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Unité de Services Communs en Génétique Humaine, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia., Hasni Y; Department of Endocrinology, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Dimassi S; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Unité de Services Communs en Génétique Humaine, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia., Khelifa HB; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Sallem A; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Laboratory of Human Cytogenetics and Biology of Reproduction, Fattouma Bourguiba University Teaching Hospital, Monastir, Tunisia., Kammoun M; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Abdallah HH; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Gribaa M; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Bignon-Topalovic J; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France., Chelly S; Private Gynecologist Sousse, Sousse, Tunisia., Khairi H; Department of Gynecology and Obstetrics, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Bibi M; Department of Gynecology and Obstetrics, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Kacem M; Department of Endocrinology, Farhat Hached University Teaching Hospital, Sousse, Tunisia., Saad A; Laboratory of Human Cytogenetics, Molecular Genetics and Biology of Human Reproduction, Farhat Hached University Teaching Hospital, Sousse, Tunisia.; Unité de Services Communs en Génétique Humaine, Faculté de Médecine de Sousse, Université de Sousse, Sousse, Tunisia., Bashamboo A; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France., McElreavey K; Human Developmental Genetics Unit, CNRS UMR 3738, Institut Pasteur, Paris, France. kenneth.mcelreavey@pasteur.fr. |
المصدر: | Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2023 Jan 11; Vol. 21 (1), pp. 2. Date of Electronic Publication: 2023 Jan 11. |
نوع المنشور: | Journal Article |
اللغة: | English |
بيانات الدورية: | Publisher: BioMed Central Country of Publication: England NLM ID: 101153627 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-7827 (Electronic) Linking ISSN: 14777827 NLM ISO Abbreviation: Reprod Biol Endocrinol Subsets: MEDLINE |
أسماء مطبوعة: | Original Publication: London : BioMed Central, 2003- |
مواضيع طبية MeSH: | Acyltransferases*/genetics , Gonadal Dysgenesis, 46,XY*/genetics , Sexual Development*/genetics , SOXE Transcription Factors*/genetics , Testis*/growth & development , Ubiquitin-Protein Ligases*/genetics, Female ; Humans ; Male ; 3-Oxo-5-alpha-Steroid 4-Dehydrogenase/genetics ; Membrane Proteins/genetics ; Mutation ; Phenotype ; Sex Differentiation |
مستخلص: | Background: Forty-six ,XY Differences/Disorders of Sex Development (DSD) are characterized by a broad phenotypic spectrum ranging from typical female to male with undervirilized external genitalia, or more rarely testicular regression with a typical male phenotype. Despite progress in the genetic diagnosis of DSD, most 46,XY DSD cases remain idiopathic. Methods: To determine the genetic causes of 46,XY DSD, we studied 165 patients of Tunisian ancestry, who presented a wide range of DSD phenotypes. Karyotyping, candidate gene sequencing, and whole-exome sequencing (WES) were performed. Results: Cytogenetic abnormalities, including a high frequency of sex chromosomal anomalies (85.4%), explained the phenotype in 30.9% (51/165) of the cohort. Sanger sequencing of candidate genes identified a novel pathogenic variant in the SRY gene in a patient with 46,XY gonadal dysgenesis. An exome screen of a sub-group of 44 patients with 46,XY DSD revealed pathogenic or likely pathogenic variants in 38.6% (17/44) of patients. Conclusion: Rare or novel pathogenic variants were identified in the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data indicate a genetic diagnosis rate of 41.2% (68/165) in the group of 46,XY DSD. (© 2023. The Author(s).) |
References: | Sex Dev. 2016;10(5-6):313-325. (PMID: 27915330) Am J Med Genet A. 2019 Jun;179(6):1053-1057. (PMID: 30912300) Nature. 2012 Apr 29;485(7397):195-200. (PMID: 22575959) Ann Trop Paediatr. 1991;11(4):343-8. (PMID: 1721791) Front Endocrinol (Lausanne). 2018 Apr 04;9:142. (PMID: 29670578) Genet Med. 2015 May;17(5):405-24. (PMID: 25741868) Horm Res. 2008;70(2):118-23. (PMID: 18547960) Proc Natl Acad Sci U S A. 2018 May 22;115(21):5474-5479. (PMID: 29735715) J Sex Res. 2002 Aug;39(3):174-8. (PMID: 12476264) PLoS Genet. 2014 May 01;10(5):e1004340. (PMID: 24784881) Clin Endocrinol (Oxf). 2016 Aug;85(2):247-57. (PMID: 26935236) Sex Dev. 2022;16(2-3):207-224. (PMID: 35636390) Endocr Rev. 2019 Dec 1;40(6):1547-1572. (PMID: 31365064) J Biol Chem. 2015 Jan 23;290(4):2235-43. (PMID: 25488661) Reproduction. 2014 Dec;148(6):R97-110. (PMID: 25187620) Front Genet. 2022 Aug 30;13:900574. (PMID: 36110220) J Clin Endocrinol Metab. 2014 May;99(5):1503-9. (PMID: 24758178) J Biol Chem. 2012 Dec 14;287(51):42881-9. (PMID: 23112049) Mol Cytogenet. 2021 Feb 24;14(1):12. (PMID: 33627176) Mol Genet Genomic Med. 2019 Mar;7(3):e558. (PMID: 30690934) Am J Med Genet A. 2021 Jun;185(6):1666-1677. (PMID: 33742552) Proc Natl Acad Sci U S A. 2011 Jan 25;108(4):1597-602. (PMID: 21220346) Gene. 2019 Nov 15;718:144072. (PMID: 31446095) Best Pract Res Clin Endocrinol Metab. 2008 Feb;22(1):119-34. (PMID: 18279784) BMC Bioinformatics. 2010 Nov 08;11:548. (PMID: 21059217) Asian J Androl. 2021 Jan-Feb;23(1):69-73. (PMID: 32985417) Hum Hered. 2014;77(1-4):108-17. (PMID: 25060274) Front Endocrinol (Lausanne). 2022 Mar 21;13:810782. (PMID: 35432193) Am J Med Genet A. 2021 Sep;185(9):2789-2800. (PMID: 32949114) Am J Hum Genet. 2016 Oct 6;99(4):877-885. (PMID: 27666373) Am J Med Genet A. 2009 Aug;149A(8):1661-77. (PMID: 19606479) Hum Mol Genet. 2018 Apr 1;27(7):1228-1240. (PMID: 29373757) PLoS Genet. 2017 Jan 3;13(1):e1006520. (PMID: 28045957) Best Pract Res Clin Endocrinol Metab. 2022 Jan;36(1):101633. (PMID: 35249806) Horm Res. 2006;66(4):195-203. (PMID: 16877870) Arch Dis Child. 2006 Jul;91(7):554-63. (PMID: 16624884) Biol Reprod. 2015 Aug;93(2):35. (PMID: 26108792) J Clin Med. 2020 Nov 04;9(11):. (PMID: 33158283) |
فهرسة مساهمة: | Keywords: 46,XY DSD; Cytogenetic abnormalities; Disorders of sex development (DSD); Whole exome sequencing(WES) |
المشرفين على المادة: | EC 1.3.99.5 (3-Oxo-5-alpha-Steroid 4-Dehydrogenase) EC 2.3.- (Acyltransferases) EC 2.3.1.- (HHAT protein, human) 0 (Membrane Proteins) 0 (SOX8 protein, human) 0 (SOXE Transcription Factors) EC 1.3.99.5 (SRD5A2 protein, human) EC 2.3.2.27 (Ubiquitin-Protein Ligases) EC 2.3.2.27 (ZNRF3 protein, human) |
تواريخ الأحداث: | Date Created: 20230111 Date Completed: 20230214 Latest Revision: 20230309 |
رمز التحديث: | 20230309 |
مُعرف محوري في PubMed: | PMC9990451 |
DOI: | 10.1186/s12958-022-01045-7 |
PMID: | 36631813 |
قاعدة البيانات: | MEDLINE |
تدمد: | 1477-7827 |
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DOI: | 10.1186/s12958-022-01045-7 |