Nonsense variants of STAG2 result in distinct congenital anomalies.
Nonsense variants of STAG2 result in distinct congenital anomalies.
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DOI：
10.1038/s41439-020-00114-w
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发表时间：
2020
影响因子：
1.5
通讯作者：
Matsumoto N
中科院分区：
文献类型：
--
作者：
Aoi H;Lei M;Mizuguchi T;Nishioka N;Goto T;Miyama S;Suzuki T;Iwama K;Uchiyama Y;Mitsuhashi S;Itakura A;Takeda S;Matsumoto N
在此，我们报告了两个女性病例与新的无义突变STAG2在Xq25，编码基质抗原2，一个组成部分的凝聚力复合物。外显子组分析鉴定c.3097 C>T，p.（Arg1033*）在病例1（胎儿有多个先天性异常）和c.2229 G>A，p.（Trp 743 *）在病例2（一名患有白色发育不全和腭裂的7岁女孩）中。X染色体失活在这两种情况下都是高度偏斜的。
Herein, we report two female cases with novel nonsense mutations of STAG2 at Xq25, encoding stromal antigen 2, a component of the cohesion complex. Exome analysis identified c.3097 C>T, p.(Arg1033*) in Case 1 (a fetus with multiple congenital anomalies) and c.2229 G>A, p.(Trp743*) in Case 2 (a 7-year-old girl with white matter hypoplasia and cleft palate). X inactivation was highly skewed in both cases.