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Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism.
J Clin Endocrinol Metab. 1998 Aug; 83(8):2960-3.JC

Abstract

Biochemical signs and severity of symptoms of primary hyperparathyroidism (pHPT) differ among patients, and little is known of any coupling of clinical characteristics of nonfamilial pHPT to genetic abnormalities in the parathyroid tumors. Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. Many of the detected mutations would most likely result in a nonfunctional menin protein, consistent with a tumor suppressor mechanism. Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. However, the demonstration of LOH at 11q13 and MEN1 gene mutations in small parathyroid adenomas of patients with slight hypercalcemia and normal serum PTH levels suggest that altered MEN1 gene function may also be important for the development of mild sporadic pHPT.

Authors+Show Affiliations

Department of Surgery, Uppsala University Hospital, Sweden. tobias.carling@kirurgi.uu.seNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9709976

Citation

Carling, T, et al. "Parathyroid MEN1 Gene Mutations in Relation to Clinical Characteristics of Nonfamilial Primary Hyperparathyroidism." The Journal of Clinical Endocrinology and Metabolism, vol. 83, no. 8, 1998, pp. 2960-3.
Carling T, Correa P, Hessman O, et al. Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J Clin Endocrinol Metab. 1998;83(8):2960-3.
Carling, T., Correa, P., Hessman, O., Hedberg, J., Skogseid, B., Lindberg, D., Rastad, J., Westin, G., & Akerström, G. (1998). Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. The Journal of Clinical Endocrinology and Metabolism, 83(8), 2960-3.
Carling T, et al. Parathyroid MEN1 Gene Mutations in Relation to Clinical Characteristics of Nonfamilial Primary Hyperparathyroidism. J Clin Endocrinol Metab. 1998;83(8):2960-3. PubMed PMID: 9709976.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. AU - Carling,T, AU - Correa,P, AU - Hessman,O, AU - Hedberg,J, AU - Skogseid,B, AU - Lindberg,D, AU - Rastad,J, AU - Westin,G, AU - Akerström,G, PY - 1998/8/26/pubmed PY - 1998/8/26/medline PY - 1998/8/26/entrez SP - 2960 EP - 3 JF - The Journal of clinical endocrinology and metabolism JO - J Clin Endocrinol Metab VL - 83 IS - 8 N2 - Biochemical signs and severity of symptoms of primary hyperparathyroidism (pHPT) differ among patients, and little is known of any coupling of clinical characteristics of nonfamilial pHPT to genetic abnormalities in the parathyroid tumors. Mutations in the recently identified MEN1 gene at chromosome 11q13 have been found in parathyroid tumors of nonfamilial pHPT. Using microsatellite analysis for loss of heterozygosity (LOH) at 11q13 and DNA sequencing of coding exons, the MEN1 gene was studied in 49 parathyroid lesions of patients with divergent symptoms, operative findings, histopathological diagnosis, and biochemical signs of nonfamilial pHPT. Allelic loss at 11q13 was detected in 13 tumors, and 6 of them demonstrated previously unrecognized somatic missense and frameshift deletion mutations of the MEN1 gene. Many of the detected mutations would most likely result in a nonfunctional menin protein, consistent with a tumor suppressor mechanism. Clinical and biochemical characteristics of HPT were apparently unrelated to the presence or absence of LOH and the MEN1 gene mutations. However, the demonstration of LOH at 11q13 and MEN1 gene mutations in small parathyroid adenomas of patients with slight hypercalcemia and normal serum PTH levels suggest that altered MEN1 gene function may also be important for the development of mild sporadic pHPT. SN - 0021-972X UR - https://www.unboundmedicine.com/medline/citation/9709976/Parathyroid_MEN1_gene_mutations_in_relation_to_clinical_characteristics_of_nonfamilial_primary_hyperparathyroidism_ L2 - https://academic.oup.com/jcem/article-lookup/doi/10.1210/jcem.83.8.4977 DB - PRIME DP - Unbound Medicine ER -