TY  - BOOK
AU  - Liang,Bo
AU  -  Meng,Dedi
AU  -  Cao,Yan
AU  -  Zhang,Dianan
AU  -  Zhou,Junzhong
AU  -  Chen,Mengyun
AU  -  Chen,Gang
AU  -  Huang,Hequn
TI  - A novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
PY  - 2022///.
							
N1  - 33
N2  - 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
UR  - https://shs.cairn.info/revue-european-journal-of-dermatology-2022-5-page-632?lang=en&redirect-ssocas=7080
ER  -