Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.
Analysis of L1CAM gene mutation and imaging appearance in three Chinese families with L1 syndrome: Three case reports.
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DOI：
10.1002/mgg3.2002
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发表时间：
2022-09
影响因子：
2
通讯作者：
中科院分区：
文献类型：
--
作者：
本文报道了来自3个独立的中国脑积水家族史的4例L1综合征胎儿的L1CAM基因的分子突变及其影像学表现。三种中的两种是新型L1CAM改型。收集了3个中国家庭的临床和影像学检查结果。穿刺采集胎儿标本，提取基因组DNA，进行全外显子组测序，并通过PCR和Sanger测序验证L1CAM基因突变位点。在本病例报告中，我们描述了三个有L1综合征病史的中国家庭的影像学表现并研究了L1 cam基因的突变；这些突变包括两个无义突变（c.262C>T和c.261C>G）和一个剪接位点突变（c.524‐1G>A）。这三个中的两个是新的L1CAM变体：c.262C>T和c.261C>G。超声检查结果显示胎儿有严重的脑积水。c.262C>T和c.261C>G突变的胎儿双侧侧脑室扩张。c.262C>T突变胎儿左心室约14mm宽，右心室约14mm宽。c.261C>G突变胎儿左心室宽约24.9 mm，右心室宽约23.9 mm。c.524‐1G>A突变胎儿的超声检查显示，第三脑室（7.5 mm宽）凸起，第四脑室与大池连通。父母要求终止上述妊娠。本研究强调结合家族史、产前超声检查、L1CAM突变检测阳性对L1综合征诊断的重要性。在本病例报告中，我们描述了三个中国家庭的L1CAM基因的影像学表现并研究了其突变。本研究强调结合家族史、产前超声检查、L1CAM突变检测阳性L1综合征诊断的重要性。
The molecular mutations of the L1CAM gene and the imaging appearances of four fetuses with L1 syndrome from three independent Chinese families with a history of hydrocephalus were reported in this study. Two of the three are novel L1CAM variants. Results of clinical and imaging examinations of three Chinese families were collected. Fetal samples were collected by puncture, genomic DNA was extracted, whole‐exome sequencing was performed, and the L1CAM gene mutation sites were verified by PCR and Sanger sequencing. In this case report, we described the imaging appearance and investigated the mutations of the L1CAM gene in three Chinese families with a history of L1 syndrome; these included two nonsense mutations (c.262C>T and c.261C>G) and one splice‐site mutation (c.524‐1G>A). Two of these three are novel L1CAM variants: c.262C>T and c.261C>G. The results of the sonographic images of the affected fetuses showed severe hydrocephalus. Bilateral lateral ventricles were dilated in the fetuses with c.262C>T and c.261C>G mutations. The left ventricle was about 14 mm wide and the right was about 14 mm in the fetus with c.262C>T mutation. The left ventricle was about 24.9 mm wide and the right was about 23.9 mm in the fetus with c.261C>G mutation. The ultrasound examination of the fetus with c.524‐1G>A mutation showed that the third ventricle (7.5 mm wide) was raised, and the fourth ventricle was communicated with the cisterna magna. The parents requested termination of the above pregnancy. The current study emphasizes the importance of combining family history, prenatal ultrasonography, and L1CAM mutation testing positive for the diagnosis of the L1 syndrome. In this case report, we described the imaging appearance and investigated the mutations of the L1CAM gene in three Chinese families .The current study emphasizes the importance of combining family history, prenatal ultrasonography, and L1CAM mutation testing positive the diagnosis of L1 syndrome.
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影响因子：
3.1
作者：
Ferese, Rosangela;Zampatti, Stefania;Gambardella, Stefano
通讯作者：
Gambardella, Stefano
影响因子：
3.5
作者：
Basel-Vanagaite, L;Straussberg, R;Schwartz, CE
通讯作者：
Schwartz, CE
影响因子：
0.7
作者：
Otter M;Wevers M;Pisters M;Pfundt R;Vos Y;Nievelstein RJ;Stumpel C
通讯作者：
Stumpel C
影响因子：
0.7
作者：
Gauntner TD;Karumuri M;Guzman MA;Starnes SE;Besmer S;Pinz H;Braddock SR;Andreone TL
通讯作者：
Andreone TL
影响因子：
4
作者：
Vos, Yvonne J.;de Walle, Hermien E. K.;Hofstra, Robert M. W.
通讯作者：
Hofstra, Robert M. W.