Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
Array-CGH analysis in patients with syndromic and non-syndromic XY gonadal dysgenesis: evaluation of array CGH as diagnostic tool and search for new candidate loci
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DOI：
10.1093/humrep/deq167
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发表时间：
2010-10-01
影响因子：
6.1
通讯作者：
Wieacker, P.
中科院分区：
文献类型：
--
作者：
Ledig, S.;Hiort, O.;Wieacker, P.
XY性腺发育不全（XY GD）是一种异质性疾病，其特征是睾丸发育失败，尽管男性核型正常。非综合征型和综合征型可以区分。目前，只有少数病例可以用基因突变来解释。本研究的目的是通过使用高分辨率Agilent寡核苷酸阵列检测87例综合征或非综合征46，XY-GD患者的微缺失和重复。在26例患者中，我们确定了包括XY-GD相关基因在内的区域的获得或丢失。本研究表明，阵列比较基因组杂交（CGH）分析是一种有效的工具，可用于XY GD的分子诊断以及鉴定与男性性发育相关的潜在候选基因。
XY gonadal dysgenesis (XY-GD) is a heterogeneous disorder characterized by failure of testicular development despite a normal male karyotype. Non-syndromic and syndromic forms can be delineated. Currently, only a minority of cases can be explained by gene mutations.The aim of this study was to detect microdeletions and duplications by using high-resolution Agilent oligonucleotide arrays in a cohort of 87 patients with syndromic or non-syndromic 46,XY-GD.In 26 patients, we identified gains or losses in regions including genes involved in XY-GD (DMRT1, SOX9, DAX1) or in regions, which have not been described as polymorphic copy number variants (CNVs).This study shows that array comparative genomic hybridization (CGH) analysis is a useful tool for the molecular diagnosis of XY-GD as well as for the identification of potential candidate genes involved in male sexual development.