A large Turkish pedigree with multiple endocrine neoplasia type 1 syndrome carrying a rare mutation: c.1680_1683 del TGAG.

CONCLUSION: We report rare MEN1 gene mutation which was descibed in a single sporadic patient before. It inherited in at least three generations of a large family, which has proven strong dominant effect on MEN1 phenotype. Further researches may be conducted to clarify potential candidacy of this mutation, as a hotspot for MEN1 patients, especially in Turkish population. PMID: 32897224 [PubMed - as supplied by publisher]
Source: The Turkish Journal of Gastroenterology - Category: Gastroenterology Authors: Tags: Turk J Gastroenterol Source Type: research