Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report
- Resource Type
- Authors
- Mufeng Yang; Xingyu Zhang; Kai Yan; Penglong Chen; Minyue Dong; Qunda Shan; Yongliang Lei; Weilan Wang; Chunlei Jin; Xiaofang Lan; Jiao Liu
- Source
- Frontiers in Genetics, Vol 11 (2021)
Frontiers in Genetics
- Subject
- lcsh:QH426-470
Genetic counseling
Case Report
Prenatal diagnosis
Compound heterozygosity
030207 dermatology & venereal diseases
03 medical and health sciences
symbols.namesake
skin abnormalities
0302 clinical medicine
Genetics
Medicine
ABCA12
harlequin ichthyosis
Genetics (clinical)
Exome sequencing
Sanger sequencing
Fetus
biology
business.industry
autosomal recessive
Harlequin Ichthyosis
fetus
lcsh:Genetics
symbols
biology.protein
Molecular Medicine
business
030217 neurology & neurosurgery
ABCA12 gene mutation
- Language
- English
- ISSN
- 1664-8021
BackgroundHarlequin ichthyosis (HI) is the most severe form of the keratinizing disorders, and it is characterized by whole-body hard stratum corneum. ABCA12 has been identified as the major disease-causing gene of HI.MethodsA 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.ResultsCompound heterozygous frameshift variants (p.Q719QfsX21; p.F2286LfsX6) of ABCA12 were identified for the fetus, suggesting the former variants were maternally inherited and the latter paternally inherited. The fetus was terminated.ConclusionA 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.