Subject: Congenital anomalies of kidneys and the urinary tract (CAKUT)
Subject: Copy number variations (CNVs)
Subject: Disorders of sex development (DSD)
Year: 2019
Type: Article
Title: Duplication of the SOX3 Gene in an Sry-negative 46, XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature
Author: Tasic, Velibor
Author: Mitrotti A
Author: Riepe FG
Author: Kulle AE
Author: Laban Nevenka
Author: Polenakovic Momir
Author: Plaseska-Karanfilska Dijana
Author: Sanna-Cherchi S
Author: Kostovski, Marko
Author: Guchev, Zoran
Abstract: Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kidney hypoplasia and hypospadias. Genome-wide copy number variation (CNV) analysis revealed a unique duplication of about 550 kb on chromo-some Xq27, and a 46,XX karyotype, consistent with a sex reversal phenotype. This region includes multiple genes, and, among these, SOX3 emerged as the main phenotypic driver. This is the fifth case reporting a genomic imbalance involving the SOX3 gene in a 46,XX SRY-negative male, and the first with associated renal malformations. Our data provide plausible links between SOX3 gene dosage and kidney malformations. It is noteworthy that the current and reported SOX3 gene duplications are below the detection threshold of standard karyotypes and were found only by analyzing CNVs using DNA microarrays. Therefore, all46,XX SRY-negative males should be screened for SOX3gene duplications with DNA microarrays.
Publisher: Macedonian Academy of Sciences and Arts
Relation: Balkan Journal of Medical Genetics
Identifier: oai:repository.ukim.mk:20.500.12188/28151
Identifier: Tasic V, Mitrotti A, Riepe FG, Kulle AE, Laban N, Polenakovic M, Plaseska-Karanfilska D, Sanna-Cherchi S, Kostovski M, Gucev Z. Duplication of The SOX3 Gene in an Sry-negative 46, XX Male with Associated Congenital Anomalies of Kidneys and the Urinary Tract: Case Report and Review of the Literature. Balkan J Med Genet. 2019;22(1):81-88.
Identifier: http://hdl.handle.net/20.500.12188/28151Identifier: 10.2478/bjmg-2019-0006
