Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa

Table 4 Pathogenetic mutations in the LAMC2 gene in patients with JEB

Patient No.	Phenotype^a	Genetic Status	Mutations	Verification	Consequence^b	Reference
1	H-JEB	Compound heterozygote	1154delT/2986+1G→A	MnlI/ASO	PTC/PTC	This study
2	H-JEB	Homozygote	R95X	TaqI	PTC/PTC	This study
3	H-JEB	Compound heterozygote	Q895X/?	ASO	PTC/?	This study
4	H-JEB	Homozygote	Y394X	ASO	PTC/PTC	18
5	H-JEB	Homozygote	1070G→T	ASO	PTC/PTC	18
6	H-JEB	Homozygote	R95X	TaqI	PTC/PTC	20
7	NL-JEB	Homozygote	1184-1G→A	ScaI	In-frame exon skip	21
8	NL-JEB	Compound heterozygote	2336del20→G/?	Agarose gel	PTC/?	21

^aH-JEB, Herlitz type junctional EB; NL-JEB, nonlethal variant of junctional EB.
^bPTC, premature termination codon for translation; the in-frame exon skip mutation was initially detected by RT-PCR.

ISSN: 1528-3658