Diagnosis of mosaic mutations in the MEN1 gene by Next Generation Sequencing. - Université de Lille
Article Dans Une Revue European Journal of Endocrinology Année : 2019

Diagnosis of mosaic mutations in the MEN1 gene by Next Generation Sequencing.

Résumé

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.

Dates et versions

hal-04346712 , version 1 (15-12-2023)

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Citer

Lucie Coppin, Amandine Ferriere, Michel Crepin, Magalie Haissaguerre, Myriam Ladsous, et al.. Diagnosis of mosaic mutations in the MEN1 gene by Next Generation Sequencing.. European Journal of Endocrinology, 2019, European Journal of Endocrinology, 180, pp.L1-L3. ⟨10.1530/EJE-18-0852⟩. ⟨hal-04346712⟩

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