A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family
Abstract Background CYLD cutaneous syndrome (CCS; syn. Brooke‐Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline mutations of the cylindromatosis (CYLD) g...
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doaj-6fba43896353447790003c3ebbe66cc32020-11-25T03:42:09ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-10-01810n/an/a10.1002/mgg3.1441A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese familyRuizheng Zhu0Jie Xu1Juan Shen2Wenru Li3Fei Tan4Changchang Li5Zhichen Wei6Yeqiang Liu7Yun Bai8Shanghai Skin Disease Hospital Tongji University School of Medicine Shanghai ChinaWenzhou Hospital of Integrated Traditional Chinese and Western Medicine Wenzhou City ChinaShanghai Skin Disease Hospital Tongji University School of Medicine Shanghai ChinaWenzhou Hospital of Integrated Traditional Chinese and Western Medicine Wenzhou City ChinaShanghai Skin Disease Hospital Tongji University School of Medicine Shanghai ChinaWenzhou Hospital of Integrated Traditional Chinese and Western Medicine Wenzhou City ChinaWenzhou Hospital of Integrated Traditional Chinese and Western Medicine Wenzhou City ChinaShanghai Skin Disease Hospital Tongji University School of Medicine Shanghai ChinaShanghai Skin Disease Hospital Tongji University School of Medicine Shanghai ChinaAbstract Background CYLD cutaneous syndrome (CCS; syn. Brooke‐Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline mutations of the cylindromatosis (CYLD) gene have been reported in CCS and most of them are frameshift mutations or small alterations. Methods We identified a large, three‐generation Chinese family with CCS, which consisted of 18 living family members, including six affected individuals. To explore the molecular biology of this family, we carried out targeted next‐generation sequencing and Affymetrix CytoScan HD SNP array to analyze the mutation in the CYLD gene. Results A novel large deletion mutation, NC_000016.9:g.(50826498_50827517)_(50963389‐50967346)del was found in the proband of this family. This deletion results in the loss of a nearly 140 kb fragment of the CYLD gene, spanning exons 17 ~ 20, which represent the coding regions of the ubiquitin‐specific protease domain. Further quantitative polymerase chain reaction proved that all patients and two proband‐related family members carried this large deletion. Conclusions Our study expands the types of mutations in CCS and will undoubtedly provide valuable information for genetic counseling for families affected by the condition.https://doi.org/10.1002/mgg3.1441CYLD cutaneous syndromeCYLD genelarge deletionmultiple familial trichoepitheliomamutation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ruizheng Zhu Jie Xu Juan Shen Wenru Li Fei Tan Changchang Li Zhichen Wei Yeqiang Liu Yun Bai |
spellingShingle |
Ruizheng Zhu Jie Xu Juan Shen Wenru Li Fei Tan Changchang Li Zhichen Wei Yeqiang Liu Yun Bai A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family Molecular Genetics & Genomic Medicine CYLD cutaneous syndrome CYLD gene large deletion multiple familial trichoepithelioma mutation |
author_facet |
Ruizheng Zhu Jie Xu Juan Shen Wenru Li Fei Tan Changchang Li Zhichen Wei Yeqiang Liu Yun Bai |
author_sort |
Ruizheng Zhu |
title |
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family |
title_short |
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family |
title_full |
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family |
title_fullStr |
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family |
title_full_unstemmed |
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese family |
title_sort |
novel large deletion of the cyld gene causes cyld cutaneous syndrome in a chinese family |
publisher |
Wiley |
series |
Molecular Genetics & Genomic Medicine |
issn |
2324-9269 |
publishDate |
2020-10-01 |
description |
Abstract Background CYLD cutaneous syndrome (CCS; syn. Brooke‐Spiegler syndrome) is a rare autosomal dominant hereditary disease characterized by multiple adnexal skin tumors including cylindromas, spiradenomas, and trichoepitheliomas. More than 100 germline mutations of the cylindromatosis (CYLD) gene have been reported in CCS and most of them are frameshift mutations or small alterations. Methods We identified a large, three‐generation Chinese family with CCS, which consisted of 18 living family members, including six affected individuals. To explore the molecular biology of this family, we carried out targeted next‐generation sequencing and Affymetrix CytoScan HD SNP array to analyze the mutation in the CYLD gene. Results A novel large deletion mutation, NC_000016.9:g.(50826498_50827517)_(50963389‐50967346)del was found in the proband of this family. This deletion results in the loss of a nearly 140 kb fragment of the CYLD gene, spanning exons 17 ~ 20, which represent the coding regions of the ubiquitin‐specific protease domain. Further quantitative polymerase chain reaction proved that all patients and two proband‐related family members carried this large deletion. Conclusions Our study expands the types of mutations in CCS and will undoubtedly provide valuable information for genetic counseling for families affected by the condition. |
topic |
CYLD cutaneous syndrome CYLD gene large deletion multiple familial trichoepithelioma mutation |
url |
https://doi.org/10.1002/mgg3.1441 |
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