Phenotypic and genotypic analysis of five fetuses with Harlequin ichthyosis due to variants of ABCA12 gene.
10.3760/cma.j.cn511374-20250416-00232
- Author:
Yimo ZENG
1
,
2
;
Juan ZHU
;
Jing WU
;
Chen LI
;
Yiming QI
;
Jiaqi LU
;
Ruiman LI
;
Aihua YIN
Author Information
1. Medical Genetics Center, Guangdong Women and Children Hospital, Guangzhou, Guangdong 511442, China. hqyylrm@
2. com.
- Publication Type:Journal Article
- MeSH:
Humans;
Ichthyosis, Lamellar/genetics*;
Female;
ATP-Binding Cassette Transporters/genetics*;
Pregnancy;
Genotype;
Phenotype;
Exome Sequencing;
Fetus;
Mutation;
Male;
Adult
- From:
Chinese Journal of Medical Genetics
2025;42(11):1302-1307
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the clinical and genetic characteristics of five fetuses with Harlequin ichthyosis (HI).
METHODS:Five fetuses with HI diagnosed at Guangdong Women and Children Hospital between 2017 and 2024 were selected as study subjects. Clinical and laboratory data were collected and reviewed. Whole exome sequencing (WES) was carried out, and candidate variants were verified by bioinformatic analysis. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: 202401024).
RESULTS:The five fetuses had presented with ectropion, eclabium and contracture and flexion of fingers and toes. WES revealed that all had harbored compound heterozygous or homozygous variants of the ABCA12 gene. Among the eight types of variants, five were unreported previously.
CONCLUSION:The compound heterozygous or homozygous variants of the ABCA12 gene probably underlay the HI in the five fetuses. Clinicians should be vigilant about the possibility of HI in fetus with ectropion, eclabium, and contracture and flexion of fingers and toes.
