Revertant mosaicism in genodermatoses
نویسندگان
چکیده
منابع مشابه
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa
Revertant mosaicism, or "natural gene therapy", is the phenomenon in which germline mutations are corrected by somatic events. In recent years, revertant mosaicism has been identified in all major types of epidermolysis bullosa, the group of heritable blistering disorders caused by mutations in the genes encoding epidermal adhesion proteins. Moreover, revertant mosaicism appears to be present i...
متن کاملRevertant Mosaicism in Epidermolysis Bullosa Caused by Mitotic Gene Conversion
Mitotic gene conversion acting as reverse mutation has not been previously demonstrated in human. We report here that the revertant mosaicism of a compound heterozygous proband with an autosomal recessive genodermatosis, generalized atrophic benign epidermolysis bullosa, is caused by mitotic gene conversion of one of the two mutated COL17A1 alleles. Specifically, the maternal allele surrounding...
متن کاملRevertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.
Revertant mosaicism due to in vivo reversion of an inherited mutation has been described in the genetic skin disease epidermolysis bullosa (EB) for the genes KRT14 and COL17A1. Here we demonstrate the presence of multiple second-site mutations, all correcting the germline mutation LAMB3:c.628G-->A;p.E210K, in 2 unrelated non-Herlitz junctional EB patients with revertant mosaicism. Both probands...
متن کاملRevertant mosaicism: partial correction of a germ-line mutation in COL17A1 by a frame-restoring mutation.
Generalized atrophic benign epidermolysis bullosa is an autosomal recessive subepidermal blistering disease typified by null mutations in COL17A1. In 1 large kindred, affected individuals were homozygous for a 2-bp deletion in COL17A1, 4003delTC, which resulted in a downstream premature termination codon, nonsense-mediated mRNA decay, and abrogation of type XVII collagen synthesis. Interestingl...
متن کاملSomatic revertant mosaicism in a patient with leukocyte adhesion deficiency type 1.
Leukocyte adhesion deficiency type 1 (LAD-1) is an autosomal recessive disorder caused by mutations in the ITGB2 (CD18) gene and characterized by recurrent severe infections, impaired pus formation, and defective wound healing. We describe an unusual case of severe phenotypic LAD-1 presenting with somatic mosaicism. The patient is a compound heterozygote bearing 2 different frameshift mutations...
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ژورنال
عنوان ژورنال: Cellular and Molecular Life Sciences
سال: 2017
ISSN: 1420-682X,1420-9071
DOI: 10.1007/s00018-017-2468-2