Mutation Analysis of the CYP4F22 Gene in a Family with Autosomal Recessive Congenital Ichthyosis
10.12376/j.issn.2097-0501.2022.03.016
- VernacularTitle:一例先天性常染色体隐性遗传性鱼鳞病家系CYP4F22基因突变分析
- Author:
Yingzi ZHANG
1
;
Zhe XU
2
;
Haitao SHI
1
;
Teng LIU
1
;
Yang ZHAO
1
Author Information
1. Department of Dermatology, Shunyi Maternal and Children's Hospital of Beijing Children's Hospital, Beijing 101300, China.
2. Department of Dermatology, National Center for Children's Health, Beijing Children's Hospital, Capital Medical University, Beijing 100045, China.
- Publication Type:Journal Article
- Keywords:
autosomal recessive congenital ichthyosis;
CYP4F22 gene;
next-generation sequencing;
pathogenic variant;
genotype-phenotype
- From:
JOURNAL OF RARE DISEASES
2022;1(3):329-333
- CountryChina
- Language:Chinese
-
Abstract:
Autosomal recessive congenital ichthyosis (ARCI) is a rare hereditary cornification disorder presented with abnormal skin scaling. In this paper, we used next-generation sequencing to determine the variants in a Chinese ARCI patient. We used sanger sequencing to verify bidirectionally the DNA from the proband and her parents. Results showes that two compound heterozygous variants (c.235G > T and c.641delG) in CYP4F22 gene, and both of the mutations are novel. The parents were heterozygous carriers. The two variants are classified as pathogenic variants based on interpretation guidelines. The compound heterozygous mutations in CYP4F22 gene were the causative mutations responsible for ARCI in proband.
