Novel compound heterozygous mutation in LAMC2 genes (c.79G>A and 382insT) in Herlitz junctional epidermolysis bullosa.

[junctional epidermolysis bullosa]

Junctional epidermolysis bullosa (JEB ) is a heritable blistering skin disease characterized by separation within the lamina lucida . It is caused by mutations in the LAMA 3 , LAMB 3 and LAMC 2 genes encoding the α 3 -, β 3 - and γ 2 -chains , respectively , of laminin-332 . JEB Herlitz type (JEB-H ) is a lethal blistering disease with severe cutaneous and extracutaneous involvements caused by null mutations in the gene encoding laminin-332 . Here , we report a proband with JEB-H who is a compound heterozygote for two novel mutations in LAMC 2 ; a missense mutation (c .79 G >A ) and an insertion mutation (382 insT ) leading to a premature termination codon .

Diseases
Validation

Diseases presenting "skin disease" symptom

child syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

harlequin ichthyosis

junctional epidermolysis bullosa

kindler syndrome

lamellar ichthyosis

omenn syndrome

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