Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
10.12376/j.issn.2097-0501.2023.02.016
- VernacularTitle:CERS3基因变异所致常染色体隐性先天性鱼鳞病一个家系报道
- Author:
Juan LIU
1
,
2
;
Ran MO
1
,
3
;
Yihe LIU
1
,
3
;
Xin HUANG
1
,
3
;
Meng GAO
1
,
3
;
Yong YANG
1
,
3
;
Zhiming CHEN
1
,
3
Author Information
1. Genetic Skin Disease Center, Chinese Academy of Medical Sciences &
2. Peking Union Medical College, Nanjing 210042, China.Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing 210042, China.Department of Dermatology, the First Affiliated Hospital of Nanjing Medical University, Nanjing 210029, China.
3. Peking Union Medical College, Nanjing 210042, China.Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing 210042, China.
- Publication Type:Journal Article
- Keywords:
autosomal recessive congenital ichthyosis;
CERS3 gene;
exon deletion;
acitretin
- From:
JOURNAL OF RARE DISEASES
2023;2(2):290-293
- CountryChina
- Language:Chinese
-
Abstract:
Autosomal recessive congenital ichthyosis caused by CERS3 mutations is extremely rare in clinical practice. We recently identified a family of autosomal recessive congenital ichthyosis and performed multigene exome sequencing for hereditary skin diseases to identify causative genes. Mutation analysis revealed compound heterozygous mutations of c.746A>G(from the mother) and exon12 deletion(from the father)in CERS3 were detected in the proband, which were verified by Sanger sequencing and co-segregated with the ichthyosis phenotype in the proband and her parents. These mutations were both reported for the first time. For the treatment, the proband received an oral acitretin capsules of 20 mg once daily. After 3-month follow up, the patient's lesion improved significantly.
