Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis
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 analysi...
| Published in: | 罕见病研究 |
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| Main Authors: | , , , , , , |
| Format: | Article |
| Language: | Chinese |
| Published: |
Editorial Office of Journal of Rare Diseases
2023-04-01
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| Subjects: | |
| Online Access: | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.016 |
| _version_ | 1850126071979048960 |
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| author | LIU Juan MO Ran LIU Yihe HUANG Xin GAO Meng YANG Yong CHEN Zhiming |
| author_facet | LIU Juan MO Ran LIU Yihe HUANG Xin GAO Meng YANG Yong CHEN Zhiming |
| author_sort | LIU Juan |
| collection | DOAJ |
| container_title | 罕见病研究 |
| description | 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. |
| format | Article |
| id | doaj-art-0c8dcbc9cd914fdc858f6e4e9eeec7e4 |
| institution | Directory of Open Access Journals |
| issn | 2097-0501 |
| language | zho |
| publishDate | 2023-04-01 |
| publisher | Editorial Office of Journal of Rare Diseases |
| record_format | Article |
| spelling | doaj-art-0c8dcbc9cd914fdc858f6e4e9eeec7e42025-08-19T23:54:22ZzhoEditorial Office of Journal of Rare Diseases罕见病研究2097-05012023-04-012229029310.12376/j.issn.2097-0501.2023.02.016Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital IchthyosisLIU JuanMO RanLIU YiheHUANG XinGAO MengYANG YongCHEN ZhimingAutosomal 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.https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.016autosomal recessive congenital ichthyosiscers3 geneexon deletionacitretin |
| spellingShingle | LIU Juan MO Ran LIU Yihe HUANG Xin GAO Meng YANG Yong CHEN Zhiming Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis autosomal recessive congenital ichthyosis cers3 gene exon deletion acitretin |
| title | Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis |
| title_full | Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis |
| title_fullStr | Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis |
| title_full_unstemmed | Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis |
| title_short | Mutations in CERS3 Gene Underlies a Case of Autosomal Recessive Congenital Ichthyosis |
| title_sort | mutations in cers3 gene underlies a case of autosomal recessive congenital ichthyosis |
| topic | autosomal recessive congenital ichthyosis cers3 gene exon deletion acitretin |
| url | https://jrd.chard.org.cn/article/doi/10.12376/j.issn.2097-0501.2023.02.016 |
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