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

Abstract：

: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.

journal_name

J Endocrinol Invest

journal_title

Journal of endocrinological investigation

authors

Ozturk M,Chiu CY,Akdeniz N,Jenq SF,Chang SC,Hsa CY,Jap TS

doi

10.1007/BF03344142

subject

Has Abstract

pub_date

2006-06-01 00:00:00

pages

523-7

issue

6

eissn

0391-4097

issn

1720-8386

pii

1512

journal_volume

29

pub_type

杂志文章

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