A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa (notice n° 604546)
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| fixed length control field | 01981cam a2200361 4500500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250121155347.0 |
| 041 ## - LANGUAGE CODE | |
| Language code of text/sound track or separate title | fre |
| 042 ## - AUTHENTICATION CODE | |
| Authentication code | dc |
| 100 10 - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Liang, Bo |
| Relator term | author |
| 245 00 - TITLE STATEMENT | |
| Title | A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Date of publication, distribution, etc. | 2022.<br/> |
| 500 ## - GENERAL NOTE | |
| General note | 33 |
| 520 ## - SUMMARY, ETC. | |
| Summary, etc. | BackgroundJunctional 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.ObjectivesTo confirm the diagnosis of the JEB family and identify the pathogenic variant.Materials & MethodsWe 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.ResultsA 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.ConclusionThe diagnosis of JEB should depend on gene sequencing, and variants at splice sites may also cause the disease. |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | gene |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | splice-site variant |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | LAMB3 |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | junctional epidermolysis bullosa |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | minigene |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | gene |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | splice-site variant |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | LAMB3 |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | junctional epidermolysis bullosa |
| 690 ## - LOCAL SUBJECT ADDED ENTRY--TOPICAL TERM (OCLC, RLIN) | |
| Topical term or geographic name as entry element | minigene |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meng, Dedi |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cao, Yan |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhang, Dianan |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Zhou, Junzhong |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Mengyun |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Gang |
| Relator term | author |
| 700 10 - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Huang, Hequn |
| Relator term | author |
| 786 0# - DATA SOURCE ENTRY | |
| Note | European Journal of Dermatology | 32 | 5 | 2022-09-01 | p. 632-636 | 1167-1122 |
| 856 41 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://shs.cairn.info/revue-european-journal-of-dermatology-2022-5-page-632?lang=en&redirect-ssocas=7080">https://shs.cairn.info/revue-european-journal-of-dermatology-2022-5-page-632?lang=en&redirect-ssocas=7080</a> |
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