病例报告：丑角鱼鳞病胎儿的产前诊断发现新的复合杂合变异：病例报告
Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report.
作者信息
Liu Jiao, Zhang Xingyu, Wang Weilan, Lan Xiaofang, Dong Minyue, Yan Kai, Lei Yongliang, Chen Penglong, Yang Mufeng, Shan Qunda, Jin Chunlei
机构信息
Center of Medical Prenatal Diagnosis, Lishui Maternity and Child Health Care Hospital, Lishui, China.
Shanghai Children's Medical Center, Institute of Pediatric Translational Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
出版信息
Front Genet. 2021 Jan 12;11:608196. doi: 10.3389/fgene.2020.608196. eCollection 2020.
BACKGROUND
Harlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. has been identified as the major disease-causing gene of HI.
METHODS
A case of HI was prenatally diagnosed by ultrasonography and genetic tests. The fetus had been found with dentofacial deformity and profound thickening of the palm and plantar soft tissues. Chromosomal microarray analysis (CMA) and whole exome sequencing (WES) were then performed on the amniotic fluid to identify germline pathogenic variants for the fetus. Candidate variants were verified by Sanger sequencing.
RESULTS
Compound heterozygous frameshift variants (p.Q719QfsX21; p.F2286LfsX6) of were identified for the fetus, suggesting the former variants were maternally inherited and the latter paternally inherited. The fetus was terminated.
CONCLUSION
A prenatal molecular diagnosis is an important approach for the prevention of HI. In the study, we provided a successful case of genetic counseling for a family with an HI baby.
背景
丑角鱼鳞病（HI）是角化障碍最严重的形式，其特征为全身角质层坚硬。已被确定为HI的主要致病基因。
方法
通过超声检查和基因检测对1例HI进行产前诊断。发现胎儿存在牙颌面畸形以及手掌和足底软组织明显增厚。随后对羊水进行染色体微阵列分析（CMA）和全外显子组测序（WES），以鉴定胎儿的胚系致病变异。候选变异通过桑格测序进行验证。
结果
为胎儿鉴定出复合杂合移码变异（p.Q719QfsX21；p.F2286LfsX6），提示前一个变异为母系遗传，后一个为父系遗传。该胎儿被终止妊娠。
结论
产前分子诊断是预防HI的重要方法。在本研究中，我们为一个有HI患儿的家庭提供了成功的遗传咨询案例。
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