Eur J Endocrinol
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

DOI: 10.1530/eje.0.1400429
European Journal of Endocrinology, Vol 140, Issue 5, 429-433
Copyright © 1999 by European Society of Endocrinology
This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Cetani, F
Right arrow Articles by Marcocci, C
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Cetani, F
Right arrow Articles by Marcocci, C
Case Reports

A new mutation of the MEN1 gene in an italian kindred with multiple endocrine neoplasia type 1

F Cetani, E Pardi, L Cianferotti, E Vignali, A Picone, P Miccoli, A Pinchera, and C Marcocci

Dipartimento di Endocrinologia e Metabolismo, Ortopedia e Traumatologia, Medicina del Lavoro, Universita di Pisa, Pisa, Italy.

OBJECTIVE: To report a new mutation of the multiple endocrine neoplasia type 1 (MEN1) gene in an Italian kindred. DESIGN: The study included the female proband, aged 50 years, affected by primary hyperparathyroidism, insulinoma and prolactinoma, and ten relatives. Blood samples were obtained for biochemical and genetic analyses. Clinical screening tests included serum glucose, ionized calcium, intact parathyroid hormone, GH, insulin and prolactin. The coding sequence, including nine coding exons and 16 splice sites, was amplified by PCR and directly sequenced. RESULTS: Two additional cases of primary hyperparathyroidism were identified among the paternal family members. The sequence analysis showed a heterozygous T to C transition at codon 444 in exon 9, resulting in a leucine to proline substitution (L444P) in the patient and in the two paternal family members with primary hyperparathyroidism. The L444P amino acid change was absent in 50 normal subjects. The mutation determined the loss of a BlnI restriction site of the wild-type sequence and the creation of a new restriction EcoRII site. The patient, but not her paternal affected relatives, also had a common heterozygous polymorphism (D418D) in exon 9. CONCLUSIONS: A new MEN1 mutation (L444P) in exon 9 has been identified; this substitution caused the loss of a BlnI restriction site and the creation of a new EcoRII site.


This article has been cited by other articles:


Home page
 Eur J EndocrinolHome page
D M Lourenco Jr, R A Toledo, I I Mackowiak, F L Coutinho, M G Cavalcanti, J E M Correia-Deur, F Montenegro, S A C Siqueira, L C Margarido, M C Machado, et al.
Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile
Eur. J. Endocrinol., September 1, 2008; 159(3): 259 - 274.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
F. Cetani, E. Pardi, S. Borsari, P. Viacava, G. Dipollina, L. Cianferotti, E. Ambrogini, E. Gazzerro, G. Colussi, P. Berti, et al.
Genetic Analyses of the HRPT2 Gene in Primary Hyperparathyroidism: Germline and Somatic Mutations in Familial and Sporadic Parathyroid Tumors
J. Clin. Endocrinol. Metab., November 1, 2004; 89(11): 5583 - 5591.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
J. J. O. Turner, P. D. Leotlela, A. A. J. Pannett, S. A. Forbes, J. H. D. Bassett, B. Harding, P. T. Christie, D. Bowen-Jones, S. Ellard, A. Hattersley, et al.
Frequent Occurrence of an Intron 4 Mutation in Multiple Endocrine Neoplasia Type 1
J. Clin. Endocrinol. Metab., June 1, 2002; 87(6): 2688 - 2693.
[Abstract] [Full Text] [PDF]

Home page
 Mol. Endocrinol.Home page
S. S. Guo and M. P. Sawicki
Molecular and Genetic Mechanisms of Tumorigenesis in Multiple Endocrine Neoplasia Type-1
Mol. Endocrinol., October 1, 2001; 15(10): 1653 - 1664.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1999 European Society of Endocrinology.