Genetic analysis and prenatal diagnosis of a fetus with harlequin ichthyosis
10.3760/cma.j.issn.1003-9406.2019.12.011
- VernacularTitle: 一例丑角样鱼鳞病胎儿的遗传学分析及产前诊断
- Author:
Xiaojie YAN
1
;
Yushi XIANG
2
;
Dawei HUAN
3
;
Xiaojing FENG
4
;
Yanhui ZHAO
1
;
Hong PANG
1
Author Information
1. Department of Genetics, Shenyang Women and Children’s Hospital, Shenyang, Liaoning 110010, China
2. Department of Ultrasonography, Shenyang Women and Children’s Hospital, Shenyang, Liaoning 110010, China
3. Department of Pathology, Shenyang Women and Children’s Hospital, Shenyang, Liaoning 110010, China
4. Department of Obstetrics, Shenyang Women and Children’s Hospital, Shenyang, Liaoning 110010, China
- Publication Type:Clinical Trail
- Keywords:
Harlequin ichthyosis;
ABCA12 gene;
Whole exome sequencing;
Prenatal diagnosis
- From:
Chinese Journal of Medical Genetics
2019;36(12):1195-1198
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To carry out variant analysis for a fetus suspected with harlequin ichthyosis (HI).
Methods:Whole exome sequencing (WES) was employed to detect potential variant in the fetus. Suspected variant was validated by Sanger sequencing.
Results:A homozygous missense variant c. 6858delT (p.F2286fs) was detected in the fetus, for which both parents were heterozygous carriers. Pathological analysis confirmed the diagnosis of HI.
Conclusion:The c. 6858delT variant of the ABCA12 gene probably underlies the disease in the fetus.
