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: Demirtaş CÖ, Ata P, Çetin A, Türkyılmaz A, Duman DG Tags: Turk J Gastroenterol Source Type: research
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