Diagnosis of mosaic mutations in the MEN1 gene by next generation sequencing

in European Journal of Endocrinology
Correspondence should be addressed to A Tabarin; Email: antoine.tabarin@chu-bordeaux.fr

(A Tabarin and M-F Odou contributed equally to the study)

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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.

Case 1

The proband was a 68-year-old man diagnosed at the age of 45 years with primary hyperparathyroidism (PHPT) in the


     European Society of Endocrinology

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    Genetic analysis in case n°2. (A) MEN1 Sanger sequencing of the proband: c.794G>A p.(Trp265*) heterozygous. (B) MEN1 Sanger sequencing of the father: no sequence variation detected. (C) MEN1 NGS sequencing of the father: mosaicism at the level of 6% of mutated alleles for c.794G>A p.(Trp265*). (D) Detail of the reads obtained by NGS.



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