Article
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
American journal of human genetics - 9 Mar 2012
Jongmans Marjolijn C J, Verwiel Eugene T P, Heijdra Yvonne, Vulliamy Tom, Kamping Eveline J, Hehir-Kwa Jayne Y, Bongers Ernie M H F, Pfundt Rolph, van Emst Liesbeth, van Leeuwen Frank N, van Gassen Koen L I, Geurts van Kessel Ad, Dokal Inderjeet, Hoogerbrugge Nicoline, Ligtenberg Marjolijn J L, Kuiper Roland P
Abstract excerpt
Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by mitotic recombination of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita (DC). DC is a multisystem disorder characterized by mucocutaneous abnormalities, dystrophic nails, bone-marrow...
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