Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.
Prenatal diagnosis of a nonsense mutation in the L1CAM gene resulting in congenital hydrocephalus: A case report and literature review.
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DOI：
10.3892/etm.2021.10807
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发表时间：
2021-12
影响因子：
2.7
通讯作者：
Wu X
中科院分区：
文献类型：
--
作者：
Wang R;Chen H;Wang X;Huang S;Xie A;Wu X
先天性脑积水通常由L1细胞粘附分子（L1CAM）基因突变引起。本研究的目的是确定一个中国家庭胎儿脑积水的可能原因。收集父母和脑积水胎儿的样本。进行全外显子组测序和深入突变分析。所鉴定的变异体c.1267C>T。（p.Q423X），位于L1CAM基因第11外显子（X染色体：153134975）。胎儿被证实为无义突变的半合子，母亲是杂合子携带者。该突变将谷氨酰胺转变为氨基酸位置423处的提前终止密码子。总之，在本研究中，L1CAM基因的无义突变被确定在产前诊断的先天性脑积水胎儿从中国家庭。该诊断强调了遗传筛查用于产前诊断的必要性。
Congenital hydrocephalus is frequently caused by mutations in the L1 cell adhesion molecule (L1CAM) gene. The purpose of the present study was to identify possible causes of fetal hydrocephalus in a Chinese family. The samples from the parents and the hydrocephalic fetus were collected. Whole-exome sequencing and in-depth mutation analysis were performed. The identified variant, c.1267C>T.(p.Q423X), is situated on exon 11 of L1CAM gene (chromosome X:153134975). The fetus was confirmed to be hemizygous for the nonsense mutation and the mother was a heterozygous carrier. The mutation turns a glutamine into a premature stop codon at amino acid position 423. In conclusion, in the present study, a nonsense mutation in the L1CAM gene was identified during the prenatal diagnosis of a congenital hydrocephalic fetus from a Chinese family. The diagnosis highlighted the necessity of genetic screening for prenatal diagnosis.
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