E-viri
Recenzirano
Odprti dostop
-
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
Genetics in medicine, 01/2020, Letnik: 22, Številka: 1Journal Article
To evaluate the incidence of mosaicism in de novo neurofibromatosis 2 (NF2). 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 variants evaluated using next-generation sequencing. The rate of proven/presumed mosaicism was 232/1055 (22.0%). However, nonmosaic heterozygous pathogenic variants were only identified in 387/1055 (36.7%). When variant detection rates in second generation nonmosaics were applied to de novo cases, we assessed the overall probable mosaicism rate to be 59.7%. This rate differed by age from 21.7% in those presenting with bilateral vestibular schwannoma <20 years to 80.7% in those aged ≥60 years. A mosaic variant was detected in all parents of affected children with a single-nucleotide pathogenic NF2 variant. This study has identified a very high probable mosaicism rate in de novo NF2, probably making NF2 the condition with the highest expressed rate of mosaicism in de novo dominant disease that is nonlethal in heterozygote form. Risks to offspring are small and probably correlate with variant allele frequency detected in blood.
Avtor
![loading ... loading ...](themes/default/img/ajax-loading.gif)
Vnos na polico
Trajna povezava
- URL:
Faktor vpliva
Dostop do baze podatkov JCR je dovoljen samo uporabnikom iz Slovenije. Vaš trenutni IP-naslov ni na seznamu dovoljenih za dostop, zato je potrebna avtentikacija z ustreznim računom AAI.
Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
---|---|---|---|---|---|---|---|---|
JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
Baze podatkov, v katerih je revija indeksirana
Ime baze podatkov | Področje | Leto |
---|
Povezave do osebnih bibliografij avtorjev | Povezave do podatkov o raziskovalcih v sistemu SICRIS |
---|
Vir: Osebne bibliografije
in: SICRIS
To gradivo vam je dostopno v celotnem besedilu. Če kljub temu želite naročiti gradivo, kliknite gumb Nadaljuj.