A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
Background Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site. Objectives To confirm the diagnosis of the JEB family and iden...
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| Veröffentlicht in: | EJD. European journal of dermatology 2022-09, Vol.32 (5), p.632-636 |
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| container_title | EJD. European journal of dermatology |
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| creator | Liang, Bo Meng, Dedi Cao, Yan Zhang, Dianan Zhou, Junzhong Chen, Mengyun Chen, Gang Huang, Hequn |
| description | Background
Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site.
Objectives
To confirm the diagnosis of the JEB family and identify the pathogenic variant.
Materials & Methods
We collected clinical data and DNA from the members of the family. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene variants. The pMINI minigene system was used to design
in vitro
experiments, to confirm the pathogenic variants.
Results
A novel splice-site variant (c.629-12T > G) of the
LAMB3
gene was detected in all patients and was shown to be a pathogenic variant.
Conclusion
The diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease. |
| doi_str_mv | 10.1684/ejd.2022.4318 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_2747003741</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>2747003741</sourcerecordid><originalsourceid>FETCH-LOGICAL-c265t-c84e0d4bf2da081f4eddb3c14489ee671018e34780c3bc42e20c7197b89df0c13</originalsourceid><addsrcrecordid>eNp10D1PwzAQgOEIgUQpjOweWRL81cQZS8WXVMQCs-U4l9aRGwdfUsS_J1FZmXzDcyf5TZJbRjOWK3kPbZ1xynkmBVNnyYKVK55KysT5NLO8SBnj_DK5Qmwp5bQUapGYNenCETzB3jsLKboByNFEZ7qBhIYMeyDb9duDIDvogDgkBjFYZwaoybcb9qQdOzu40BlPoHc1xEPwPzjBavQ-oLlOLhrjEW7-3mXy-fT4sXlJt-_Pr5v1NrU8Xw2pVRJoLauG14Yq1kio60pYJqUqAfKCUaZAyEJRKyorOXBqC1YWlSrrhlomlsnd6W4fw9cIOOiDQwvemw7CiJoXsqBUFHKm6YnaGBAjNLqP7mDij2ZUzyn1lFLPKfWccvLZyePkuh1E3YYxTj_GfxZ-AbgRdqw</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>2747003741</pqid></control><display><type>article</type><title>A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa</title><source>SpringerLink Journals</source><creator>Liang, Bo ; Meng, Dedi ; Cao, Yan ; Zhang, Dianan ; Zhou, Junzhong ; Chen, Mengyun ; Chen, Gang ; Huang, Hequn</creator><creatorcontrib>Liang, Bo ; Meng, Dedi ; Cao, Yan ; Zhang, Dianan ; Zhou, Junzhong ; Chen, Mengyun ; Chen, Gang ; Huang, Hequn</creatorcontrib><description>Background
Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site.
Objectives
To confirm the diagnosis of the JEB family and identify the pathogenic variant.
Materials & Methods
We collected clinical data and DNA from the members of the family. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene variants. The pMINI minigene system was used to design
in vitro
experiments, to confirm the pathogenic variants.
Results
A novel splice-site variant (c.629-12T > G) of the
LAMB3
gene was detected in all patients and was shown to be a pathogenic variant.
Conclusion
The diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease.</description><identifier>ISSN: 1167-1122</identifier><identifier>EISSN: 1952-4013</identifier><identifier>DOI: 10.1684/ejd.2022.4318</identifier><language>eng</language><publisher>Paris: John Libbey Eurotext</publisher><subject>Dermatology ; Genes & Skin ; Medicine ; Medicine & Public Health</subject><ispartof>EJD. European journal of dermatology, 2022-09, Vol.32 (5), p.632-636</ispartof><rights>JLE/Springer 2022</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c265t-c84e0d4bf2da081f4eddb3c14489ee671018e34780c3bc42e20c7197b89df0c13</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1684/ejd.2022.4318$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1684/ejd.2022.4318$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,776,780,27903,27904,41467,42536,51298</link.rule.ids></links><search><creatorcontrib>Liang, Bo</creatorcontrib><creatorcontrib>Meng, Dedi</creatorcontrib><creatorcontrib>Cao, Yan</creatorcontrib><creatorcontrib>Zhang, Dianan</creatorcontrib><creatorcontrib>Zhou, Junzhong</creatorcontrib><creatorcontrib>Chen, Mengyun</creatorcontrib><creatorcontrib>Chen, Gang</creatorcontrib><creatorcontrib>Huang, Hequn</creatorcontrib><title>A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa</title><title>EJD. European journal of dermatology</title><addtitle>Eur J Dermatol</addtitle><description>Background
Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site.
Objectives
To confirm the diagnosis of the JEB family and identify the pathogenic variant.
Materials & Methods
We collected clinical data and DNA from the members of the family. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene variants. The pMINI minigene system was used to design
in vitro
experiments, to confirm the pathogenic variants.
Results
A novel splice-site variant (c.629-12T > G) of the
LAMB3
gene was detected in all patients and was shown to be a pathogenic variant.
Conclusion
The diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease.</description><subject>Dermatology</subject><subject>Genes & Skin</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><issn>1167-1122</issn><issn>1952-4013</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2022</creationdate><recordtype>article</recordtype><recordid>eNp10D1PwzAQgOEIgUQpjOweWRL81cQZS8WXVMQCs-U4l9aRGwdfUsS_J1FZmXzDcyf5TZJbRjOWK3kPbZ1xynkmBVNnyYKVK55KysT5NLO8SBnj_DK5Qmwp5bQUapGYNenCETzB3jsLKboByNFEZ7qBhIYMeyDb9duDIDvogDgkBjFYZwaoybcb9qQdOzu40BlPoHc1xEPwPzjBavQ-oLlOLhrjEW7-3mXy-fT4sXlJt-_Pr5v1NrU8Xw2pVRJoLauG14Yq1kio60pYJqUqAfKCUaZAyEJRKyorOXBqC1YWlSrrhlomlsnd6W4fw9cIOOiDQwvemw7CiJoXsqBUFHKm6YnaGBAjNLqP7mDij2ZUzyn1lFLPKfWccvLZyePkuh1E3YYxTj_GfxZ-AbgRdqw</recordid><startdate>20220901</startdate><enddate>20220901</enddate><creator>Liang, Bo</creator><creator>Meng, Dedi</creator><creator>Cao, Yan</creator><creator>Zhang, Dianan</creator><creator>Zhou, Junzhong</creator><creator>Chen, Mengyun</creator><creator>Chen, Gang</creator><creator>Huang, Hequn</creator><general>John Libbey Eurotext</general><scope>AAYXX</scope><scope>CITATION</scope><scope>7X8</scope></search><sort><creationdate>20220901</creationdate><title>A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa</title><author>Liang, Bo ; Meng, Dedi ; Cao, Yan ; Zhang, Dianan ; Zhou, Junzhong ; Chen, Mengyun ; Chen, Gang ; Huang, Hequn</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c265t-c84e0d4bf2da081f4eddb3c14489ee671018e34780c3bc42e20c7197b89df0c13</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2022</creationdate><topic>Dermatology</topic><topic>Genes & Skin</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Liang, Bo</creatorcontrib><creatorcontrib>Meng, Dedi</creatorcontrib><creatorcontrib>Cao, Yan</creatorcontrib><creatorcontrib>Zhang, Dianan</creatorcontrib><creatorcontrib>Zhou, Junzhong</creatorcontrib><creatorcontrib>Chen, Mengyun</creatorcontrib><creatorcontrib>Chen, Gang</creatorcontrib><creatorcontrib>Huang, Hequn</creatorcontrib><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>EJD. European journal of dermatology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Liang, Bo</au><au>Meng, Dedi</au><au>Cao, Yan</au><au>Zhang, Dianan</au><au>Zhou, Junzhong</au><au>Chen, Mengyun</au><au>Chen, Gang</au><au>Huang, Hequn</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa</atitle><jtitle>EJD. European journal of dermatology</jtitle><stitle>Eur J Dermatol</stitle><date>2022-09-01</date><risdate>2022</risdate><volume>32</volume><issue>5</issue><spage>632</spage><epage>636</epage><pages>632-636</pages><issn>1167-1122</issn><eissn>1952-4013</eissn><abstract>Background
Junctional epidermolysis bullosa (JEB) is a rare inherited genetic disorder in which pathogenic mutations are mostly located within exons of the associated genes. This report describes a novel variant located at a splice site.
Objectives
To confirm the diagnosis of the JEB family and identify the pathogenic variant.
Materials & Methods
We collected clinical data and DNA from the members of the family. Whole-exome sequencing (WES) and Sanger sequencing were used to detect gene variants. The pMINI minigene system was used to design
in vitro
experiments, to confirm the pathogenic variants.
Results
A novel splice-site variant (c.629-12T > G) of the
LAMB3
gene was detected in all patients and was shown to be a pathogenic variant.
Conclusion
The diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease.</abstract><cop>Paris</cop><pub>John Libbey Eurotext</pub><doi>10.1684/ejd.2022.4318</doi><tpages>5</tpages></addata></record> |
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| identifier | ISSN: 1167-1122 |
| ispartof | EJD. European journal of dermatology, 2022-09, Vol.32 (5), p.632-636 |
| issn | 1167-1122 1952-4013 |
| language | eng |
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| source | SpringerLink Journals |
| subjects | Dermatology Genes & Skin Medicine Medicine & Public Health |
| title | A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa |
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