RETRACTED ARTICLE: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes
RETRACTED ARTICLE: Nonsense variants in STAG2 result in distinct sex-dependent phenotypes
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撤回文章：STAG2 中的无义变异导致不同的性别依赖性表型
DOI：
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发表时间：
2019
影响因子：
3.5
通讯作者：
N. Matsumoto
中科院分区：
文献类型：
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作者：
Hiromi Aoi;Ming Lei;T. Mizuguchi;N. Nishioka;T. Goto;S. Miyama;Toshifumi Suzuki;K. Iwama;Yuri Uchiyama;S. Mitsuhashi;A. Itakura;S. Takeda;N. Matsumoto
我们在此报告两个人与新的无义突变inSTAG 2 Xq 25，编码基质抗原2，一个组成部分的凝聚力复合物。例1为男性胎儿，孕15周超声检查发现前脑无裂畸形、腭裂、唇腭裂、小睑裂、鼻骨缺失、左心室发育不良。另一例女性患者（病例2）在7年时表现出明显的白色发育不全、腭裂、发育迟缓（DD）和智力残疾（ID）表型。全外显子组测序鉴定了STAG 2中的从头无义突变：c.3097C>T，p.（Arg1033*）in Case 1 and c.2229G>A，p.（Trp 743 *）在情况2中。X-失活在病例2中高度偏斜。迄今为止，在患有多种先天性异常、ID和DD的患者中仅报告了10种STAG 2致病性变体（4种无义、4种错义和2种移码）。尽管病例2显示出与报告的STAG 2异常的女性患者相似的临床特征，但病例1显示出极其严重的表型，这可以通过在男性中首次检测到截短变体来解释。
We herein report two individuals with novel nonsense mutations inSTAG2 on Xq25, encoding stromal antigen 2, a component of the cohesion complex. A male fetus (Case 1) clinically presented with holoprosencephaly, cleft palate and lip, blepharophimosis, nasal bone absence, and hypolastic left heart by ultrasonography at 15 gestational weeks. Another female patient (Case 2) showed a distinct phenotype with white matter hypoplasia, cleft palate, developmental delay (DD), and intellectual disability (ID) at 7 years. Whole-exome sequencing identified de novo nonsense mutations in STAG2: c.3097C>T, p.(Arg1033*) in Case 1 and c.2229G>A, p.(Trp743*) in Case 2. X-inactivation was highly skewed in Case 2. To date, only 10 STAG2 pathogenic variants (four nonsense, four missense, and two frameshift) have been reported in patients with multiple congenital anomalies, ID, and DD. Although Case 2 showed similar clinical features to the reported female patients with STAG2 abnormalities, Case 1 showed an extremely severe phenotype, which could be explained by the first detected truncating variant in males.
影响因子：
9.8
作者：
Fromer, Menachem;Moran, Jennifer L.;Purcell, Shaun M.
通讯作者：
Purcell, Shaun M.
影响因子：
9.8
作者：
Deardorff, Matthew A.;Wilde, Jonathan J.;Kaiser, Frank J.
通讯作者：
Kaiser, Frank J.
影响因子：
9.8
作者：
Amos-Landgraf, James M.;Cottle, Amy;Willard, Huntington F.
通讯作者：
Willard, Huntington F.