Case Report: Prenatal Diagnosis of a Fetus With Harlequin Ichthyosis Identifies Novel Compound Heterozygous Variants: A Case Report
| Autor: | Mufeng Yang, Xingyu Zhang, Kai Yan, Penglong Chen, Minyue Dong, Qunda Shan, Yongliang Lei, Weilan Wang, Chunlei Jin, Xiaofang Lan, Jiao Liu |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
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 |
| Zdroj: | Frontiers in Genetics, Vol 11 (2021) Frontiers in Genetics |
| ISSN: | 1664-8021 |
| DOI: | 10.3389/fgene.2020.608196/full |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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