000			01981cam a2200361 4500500
005			20250121155347.0
041			_afre
042			_adc
100	1	0	_aLiang, Bo _eauthor
700	1	0	_a Meng, Dedi _eauthor
700	1	0	_a Cao, Yan _eauthor
700	1	0	_a Zhang, Dianan _eauthor
700	1	0	_a Zhou, Junzhong _eauthor
700	1	0	_a Chen, Mengyun _eauthor
700	1	0	_a Chen, Gang _eauthor
700	1	0	_a Huang, Hequn _eauthor
245	0	0	_aA novel splice-site variant of the LAMB3 gene is associated with junctional epidermolysis bullosa
260			_c2022.
500			_a33
520			_aBackgroundJunctional 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			_agene
690			_asplice-site variant
690			_aLAMB3
690			_ajunctional epidermolysis bullosa
690			_aminigene
690			_agene
690			_asplice-site variant
690			_aLAMB3
690			_ajunctional epidermolysis bullosa
690			_aminigene
786	0		_nEuropean Journal of Dermatology | 32 | 5 | 2022-09-01 | p. 632-636 | 1167-1122
856	4	1	_uhttps://shs.cairn.info/revue-european-journal-of-dermatology-2022-5-page-632?lang=en&redirect-ssocas=7080
999			_c604546 _d604546