Diagnosis of a fetus with X-linked hydrocephalus due to mutation of L1CAM gene
10.3760/cma.j.issn.1003-9406.2019.09.011
- VernacularTitle: L1CAM基因检测诊断胎儿X连锁脑积水综合征一例
- Author:
Qichang WU
1
;
Li SUN
;
Yasong XU
;
Xiaomei YANG
;
Shiyu SUN
;
Wenbo WANG
Author Information
1. Center of Prenatal Diagnosis, Maternal and Child Health Care Hospital of Xiamen, Fujian 361000, China
- Publication Type:Clinical Trail
- Keywords:
X-linked hydrocephalus;
L1CAM gene;
Fetus;
Next-generation sequencing;
Genetic mutation
- From:
Chinese Journal of Medical Genetics
2019;36(9):897-900
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis for a case of recurrent fetal congenital hydrocephalus.
Methods:Next-generation sequencing was carried out for the fetus, the gravida and two of her sisters.
Results:The fetus was found to harbor a c. 1765T>C (p.Tyr589His) mutation in exon 14 of the L1CAM gene, which was derived from the gravida.
Conclusion:Male fetuses with recurrent hydrocephalus should be subjected to testing of the L1CAM gene to facilitate genetic counseling and prenatal diagnosis.
