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Two novel mutations in the MEN1 gene in subjects with multiple endocrine neoplasia-1.

Authors: Ozturk, M  Chiu, CY  Akdeniz, N  Jenq, SF  Chang, SC  Hsa, CY  Jap, TS 
Citation: Ozturk M, etal., J Endocrinol Invest. 2006 Jun;29(6):523-7.
Pubmed: (View Article at PubMed) PMID:16840830
DOI: Full-text: DOI:10.1007/BF03344142

Multiple endocrine neoplasia type 1 (MEN1) is characterized by parathyroid, enteropancreatic endocrine and pituitary adenomas as well as germline mutation of the MEN1 gene. We describe 2 families with MEN1 with novel mutations in the MEN1 gene. One family was of Turkish origin, and the index patient had primary hyperparathyroidism (PHPT) plus a prolactinoma; three relatives had PHPT only. The index patient in the second family was a 46-yr-old woman of Chinese origin living in Taiwan. This patient presented with a complaint of epigastric pain and watery diarrhea over the past 3 months, and had undergone subtotal parathyroidectomy and enucleation of pancreatic islet cell tumor about 10 yr before. There was also a prolactinoma. Sequence analysis of the MEN1 gene from leukocyte genomic DNA revealed heterozygous mutations in both probands. The Turkish patient and her affected relatives all had a heterozygous A to G transition at codon 557 (AAG-->GAG) of exon 10 of MEN1 that results in a replacement of lysine by glutamic acid. The Chinese index patient and one of her siblings had a heterozygous mutation at codon 418 of exon 9 (GAC-->TAT) that results in a substitution of aspartic acid by tyrosine. In conclusion, we have identified 2 novel missense mutations in the MEN1 gene.

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RGD Object Information
RGD ID: 1581203
Created: 2006-09-21
Species: All species
Last Modified: 2006-09-21
Status: ACTIVE



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