Article
Incidence of mosaicism in 1055 de novo NF2 cases: much higher than previous estimates with high utility of next-generation sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2020
Evans D Gareth, Hartley Claire L, Smith Philip T, King Andrew T, Bowers Naomi L, Tobi Simon, Wallace Andrew J, Perry Mary, Anup Raji, Lloyd Simon K W, Rutherford Scott A, Hammerbeck-Ward Charlotte, Pathmanaban Omar N, Stapleton Emma, Freeman Simon R, Kellett Mark, Halliday Dorothy, Parry Allyson, Gair Juliette J, Axon Patrick, Laitt Roger, Thomas Owen, Afridi Shazia K, Obholzer Rupert, Duff Chris, Stivaros Stavros M, Vassallo Grace, Harkness Elaine F, Smith Miriam J
Abstract excerpt
PURPOSE: To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2). METHODS: Patients fulfilling NF2 criteria, but with no known affected family member from a previous generation (n = 1055), were tested for NF2 variants in lymphocyte DNA and where available tumor DNA. The proportion of individuals with a proven or presumed mosaic NF2 variant was assessed and allele frequencies of identified...
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