A novel JAG1 frameshift variant causing Alagille syndrome with incomplete penetrance

被引：0
作者：
Yang, Yang [1 ]
Wang, Hao [1 ,2 ,3 ]
机构：
[1] Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, Hangzhou, Zhejiang, Peoples R China
[2] Zhejiang Univ, Sch Med, Dept Cell Biol & Med Genet, Hangzhou, Zhejiang, Peoples R China
[3] Hangzhou Matern & Child Care Hosp, Prenatal Diag Ctr, 369 Kunpeng Rd, Hangzhou 310008, Zhejiang, Peoples R China
来源：
CLINICAL BIOCHEMISTRY | 2022年 / 104卷
关键词：
Alagille syndrome; JAG1; Whole exome sequencing; Prenatal diagnosis; HUMAN JAGGED1; MUTATIONS;
D O I：
10.1016/j.clinbiochem.2022.02.004
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
Objective: We report a novel frameshift variant of JAG1 in the prenatal setting, associated with Alagille syndrome1 with incomplete penetrance in a Chinese family. Case report. A pregnant woman was referred to our center due to fetal cardiovascular abnormality. Whole exome sequencing was employed for this family. A novel heterozygous maternal-origin frameshift variant c.1794_1797del in JAG1 was identified in the fetus. The mother and the fetus had the identical variant, but they demonstrated different clinical manifestations. The fetus was diagnosed with Alagille syndrome 1. Conclusion: A novel frameshift variant in JAG1 was detected in a fetus diagnosed with Alagille syndrome 1, and it showed incomplete penetrance in the family.
引用
收藏
页码：19 / 21
页数：3
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