We recently read with interest the review article of Persani et al. (1) who highlighted the occurrence of unexpected results obtained by next generation sequencing (NGS) with the identification of novel candidate genes or variants in non-coding regions. In complement to their review, we report herein for the first time two cases of MEN1 mosaic mutations identified only by NGS, a finding that emphasizes the usefulness of this tool in current endocrine practice.
The proband was a 68-year-old man diagnosed at the age of 45 years with primary hyperparathyroidism (PHPT) in the
PersaniLde FilippisTColomboCGentiliniD.Genetic diagnosis of endocrine diseases by NGS: novel scenarios and unpredictable results and risks. European Journal of Endocrinology2018179R111–R123. (https://doi.org/10.1530/EJE-18-0379)
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SpierIDrichelDKerickMKirfelJHorpaopanSLanerAHolzapfelSPetersSAdamRZhaoBet al. Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Journal of Medical Genetics201653172–179. (https://doi.org/10.1136/jmedgenet-2015-103468)
CoppinLGrutzmacherCCrépinMDestailleurEGiraudSCardot-BautersCPorchetNPignyP.VHL mosaicism can be detected by clinical next-generation sequencing and is not restricted to patients with a mild phenotype. European Journal of Human Genetics2014221149–1152. (https://doi.org/10.1038/ejhg.2013.279)
BuffetASmatiSMansuyLMenaraMLebrasMHeymannMFSimianCFavierJMuratACariouBet al. Mosaicism in HIF2A- related polycythemia-paraganglioma syndrome. Journal of Clinical Endocrinology and Metabolism201499E369–E373. (https://doi.org/10.1210/jc.2013-2600)