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首页> 外文期刊>Balkan journal of medical genetics: BJMG >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
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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

机译：患有Sry-Digal 46中的SOX3基因的复制，XX男性，肾脏和泌尿道相关先天性异常：病例报告和文献审查

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摘要

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 chromosome 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, all 46,XX SRY-negative males should be screened for SOX3 gene duplications with DNA microarrays.
机译：性行为的障碍（DSD）是一群罕见的病症，其特征在于染色体性别，性腺和外部生殖器之间的差异。肾脏和泌尿道的先天性异常通常与DSD相关，主要是多于多种畸形综合征。我们描述了一个11岁的白种人男孩的案例，右肾发育不全和腹盆萎缩。基因组拷贝数变异（CNV）分析显示染色体XQ27上约550kb的独特复制，以及与性逆转表型一致的46，XX核型。该区域包括多种基因，其中，SOX3作为主要表型驱动器出现。这是报告涉及46，XX Sry阴性雄性的SOX3基因的基因组不平衡的第五病例，以及第一种具有相关的肾畸形。我们的数据提供SOX3基因剂量和肾脏畸形之间的合理联系。值得注意的是，目前和报告的SOX3基因重复性低于标准核型的检测阈值，并且仅通过使用DNA微阵列分析CNV来发现。因此，所有46，XX Sry-Digal Males应筛选使用DNA微阵列的SOX3基因重复。

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