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Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1.
Clin Endocrinol (Oxf). 2008 Mar; 68(3):350-4.CE

Abstract

BACKGROUND

Mutation analysis with direct DNA sequencing is commonly used for the molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1). However, a significant number of patients, despite clinical features of MEN1, do not show MEN1 mutations on direct DNA sequencing. Some of these patients may have gross gene deletions not detected by direct DNA sequencing or mutations in the noncoding regions of the gene not examined routinely.

OBJECTIVE

To determine the prevalence of gross deletions in MEN1 in a large cohort of MEN1 patients.

PATIENTS AND METHODS

During 1997-2006, we screened MEN1 mutations by direct DNA sequencing in 368 probands referred to our diagnostic molecular genetic laboratory. Of these, 101 probands (23 familial, 78 sporadic) fulfilled the clinical criteria for MEN1 (presence of at least two of the parathyroid, pancreatic or pituitary tumours) but were negative for mutations on DNA sequencing. Their DNA samples were examined for gross deletions of one or more exons of MEN1 by using multiple ligation-dependent probe amplification (MLPA) and long-range polymerase chain reaction (PCR) amplification. We also sequenced the minimal promoter region of MEN1 for mutations in the familial cases.

RESULTS

We identified a gross deletion involving exons 5 and 6 of MEN1 in one proband (prevalence rate 1%). The sequencing of the minimal promoter region in the familial cases revealed no mutations.

CONCLUSION

Gross deletion in the MEN1 gene is an uncommon cause of MEN1 and should be tested for in patients with a high clinical suspicion but without mutations on direct DNA sequencing.

Authors+Show Affiliations

Department of Molecular Genetics, Royal Devon and Exeter Hospital, Peninsula Medical School, Exeter, UK.No affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17854391

Citation

Owens, Martina, et al. "Analysis of Gross Deletions in the MEN1 Gene in Patients With Multiple Endocrine Neoplasia Type 1." Clinical Endocrinology, vol. 68, no. 3, 2008, pp. 350-4.
Owens M, Ellard S, Vaidya B. Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2008;68(3):350-4.
Owens, M., Ellard, S., & Vaidya, B. (2008). Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. Clinical Endocrinology, 68(3), 350-4.
Owens M, Ellard S, Vaidya B. Analysis of Gross Deletions in the MEN1 Gene in Patients With Multiple Endocrine Neoplasia Type 1. Clin Endocrinol (Oxf). 2008;68(3):350-4. PubMed PMID: 17854391.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Analysis of gross deletions in the MEN1 gene in patients with multiple endocrine neoplasia type 1. AU - Owens,Martina, AU - Ellard,Sian, AU - Vaidya,Bijay, Y1 - 2007/09/14/ PY - 2007/9/15/pubmed PY - 2009/7/31/medline PY - 2007/9/15/entrez SP - 350 EP - 4 JF - Clinical endocrinology JO - Clin Endocrinol (Oxf) VL - 68 IS - 3 N2 - BACKGROUND: Mutation analysis with direct DNA sequencing is commonly used for the molecular diagnosis of multiple endocrine neoplasia type 1 (MEN1). However, a significant number of patients, despite clinical features of MEN1, do not show MEN1 mutations on direct DNA sequencing. Some of these patients may have gross gene deletions not detected by direct DNA sequencing or mutations in the noncoding regions of the gene not examined routinely. OBJECTIVE: To determine the prevalence of gross deletions in MEN1 in a large cohort of MEN1 patients. PATIENTS AND METHODS: During 1997-2006, we screened MEN1 mutations by direct DNA sequencing in 368 probands referred to our diagnostic molecular genetic laboratory. Of these, 101 probands (23 familial, 78 sporadic) fulfilled the clinical criteria for MEN1 (presence of at least two of the parathyroid, pancreatic or pituitary tumours) but were negative for mutations on DNA sequencing. Their DNA samples were examined for gross deletions of one or more exons of MEN1 by using multiple ligation-dependent probe amplification (MLPA) and long-range polymerase chain reaction (PCR) amplification. We also sequenced the minimal promoter region of MEN1 for mutations in the familial cases. RESULTS: We identified a gross deletion involving exons 5 and 6 of MEN1 in one proband (prevalence rate 1%). The sequencing of the minimal promoter region in the familial cases revealed no mutations. CONCLUSION: Gross deletion in the MEN1 gene is an uncommon cause of MEN1 and should be tested for in patients with a high clinical suspicion but without mutations on direct DNA sequencing. SN - 1365-2265 UR - https://www.unboundmedicine.com/medline/citation/17854391/Analysis_of_gross_deletions_in_the_MEN1_gene_in_patients_with_multiple_endocrine_neoplasia_type_1_ L2 - https://doi.org/10.1111/j.1365-2265.2007.03045.x DB - PRIME DP - Unbound Medicine ER -