Back to Search Start Over

Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis

Authors :
LIU Juan
MO Ran
LIU Yihe
HUANG Xin
GAO Meng
YANG Yong
CHEN Zhiming
Source :
罕见病研究, Vol 2, Iss 2, Pp 290-293 (2023)
Publication Year :
2023
Publisher :
Editorial Office of Journal of Rare Diseases, 2023.

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.

Details

Language :
Chinese
ISSN :
20970501
Volume :
2
Issue :
2
Database :
Directory of Open Access Journals
Journal :
罕见病研究
Publication Type :
Academic Journal
Accession number :
edsdoj.0c8dcbc9cd914fdc858f6e4e9eeec7e4
Document Type :
article
Full Text :
https://doi.org/10.12376/j.issn.2097-0501.2023.02.016