的无义变异会导致不同的先天性异常。 （注：原文“Nonsense variants of ”后面缺少具体内容，翻译只能做到这一步，需补充完整信息才能准确翻译）
Nonsense variants of result in distinct congenital anomalies.
作者信息
Aoi Hiromi, Lei Ming, Mizuguchi Takeshi, Nishioka Nobuko, Goto Tomohide, Miyama Sahoko, Suzuki Toshifumi, Iwama Kazuhiro, Uchiyama Yuri, Mitsuhashi Satomi, Itakura Atsuo, Takeda Satoru, Matsumoto Naomichi
机构信息
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
Department of Obstetrics and Gynecology, Faculty of Medicine, Juntendo University, Tokyo, Japan.
出版信息
Hum Genome Var. 2020 Sep 18;7:26. doi: 10.1038/s41439-020-00114-w. eCollection 2020.
Herein, we report two female cases with novel nonsense mutations of 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.
在此，我们报告了两例女性病例，她们在Xq25处存在新的无义突变，该区域编码粘连复合体的一个组成部分——基质抗原2。外显子组分析在病例1（一名患有多种先天性异常的胎儿）中鉴定出c.3097 C>T，p.(Arg1033*)，在病例2（一名患有脑白质发育不全和腭裂的7岁女孩）中鉴定出c.2229 G>A，p.(Trp743*)。两例病例的X染色体失活均高度偏斜。
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