AUTHOR=Liu Jiao , Zhang Xingyu , Wang Weilan , Lan Xiaofang , Dong Minyue , Yan Kai , Lei Yongliang , Chen Penglong , Yang Mufeng , Shan Qunda , Jin Chunlei 

TITLE=Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report

JOURNAL=Frontiers in Genetics

VOLUME=11

YEAR=2021

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2020.608196

DOI=10.3389/fgene.2020.608196

ISSN=1664-8021

ABSTRACT=<sec><title>Background</title><p>Harlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. <italic>ABCA12</italic> has been identified as the major disease-causing gene of HI.</p></sec><sec><title>Methods</title><p>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.</p></sec><sec><title>Results</title><p>Compound heterozygous frameshift variants (p.Q719QfsX21; p.F2286LfsX6) of <italic>ABCA12</italic> were identified for the fetus, suggesting the former variants were maternally inherited and the latter paternally inherited. The fetus was terminated.</p></sec><sec><title>Conclusion</title><p>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.</p></sec>