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


Ozturk M., Chiu C. Y. , Akdeniz N. , Jenq S. F. , Chang S. C. , Hsa C. Y. , ...Daha Fazla

JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, cilt.29, ss.523-527, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 29 Konu: 6
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1007/bf03344142
  • Dergi Adı: JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION
  • Sayfa Sayıları: ss.523-527

Özet

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.