Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.

[junctional epidermolysis bullosa]

Mutations in the type XVII collagen gene (COL 17 A 1 ) result in the blistering disorder non-Herlitz junctional epidermolysis bullosa (JEB -nH ). The incidence of revertant mosaicism , also called "natural gene therapy ", was identified in a cohort of 14 patients with JEB -nH caused by COL 17 A 1 mutations in the Netherlands . Five different in vivo reversions , all correcting the germ-line COL 17 A 1 mutation c .2237 delG in exon 30 , were found in four mosaic JEB -nH patients . The correcting DNA changes involved a wide variety of somatic mutations , from which an indel mutation (c .2228 -101 _2263 +70 delins 15 ) and a large deletion of 2 ,165 base pairs (c .2227 +153 _2336 -318 del ) have not been previously observed in patients with revertant mosaicism . Our results show that there is no preference for a repair mechanism . Moreover , revertant mosaicism was confirmed on a DNA level in 6 out of 10 generalized JEB -nH patients . Further , photo-material and clinical history of the other four generalized JEB -nH patients demonstrated that each patient has revertant skin patches . In contrast , revertant mosaicism was not detected in the four localized JEB -nH patients . The fact that so many , if not all , generalized JEB -nH COL 17 A 1 patients have revertant patches offers opportunities for cell therapies in which the patient 's own naturally corrected cells are used as a source .

Diseases
Validation

Diseases presenting "large deletion" symptom

aniridia

canavan disease

junctional epidermolysis bullosa

kallmann syndrome

kindler syndrome

primary effusion lymphoma

von hippel-lindau disease

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

You can validate or delete this automatically detected symptom