Article
Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.
Journal of medical genetics - 1 Oct 2021
Teranishi Yu, Miyawaki Satoru, Hongo Hiroki, Dofuku Shogo, Okano Atsushi, Takayanagi Shunsaku, Ota Takahiro, Yoshimura Jun, Qu Wei, Mitsui Jun, Nakatomi Hirofumi, Morishita Shinichi, Tsuji Shoji, Saito Nobuhito
Abstract excerpt
BACKGROUND: Although 60% of patients with de novo neurofibromatosis type 2 (NF2) are presumed to have mosaic NF2, the actual diagnostic rate of this condition remains low at around 20% because of the existing difficulties in detecting NF2 variants with low variant allele frequency (VAF). Here, we examined the correlation between the genotype and phenotype of mosaic NF2 after improving the diagnostic rate of...
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