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Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states.
Hum Mol Genet. 1997 Jul; 6(7):1169-75.HM

Abstract

Familial multiple endocrine neoplasia type 1 (FMEN1) is an autosomal dominant trait characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other tissues. We recently cloned the MEN1 gene and confirmed its identity by finding mutations in FMEN1. We have now extended our mutation analysis to 34 more unrelated FMEN1 probands and to two related states, sporadic MEN1 and familial hyperparathyroidism. There was a high prevalence of heterozygous germline MEN1 mutations in sporadic MEN1 (8/11 cases) and in FMEN1 (47/50 probands). One case of sporadic MEN1 was proven to be a new MEN1 mutation. Eight different mutations were observed more than once in FMEN1. Forty different mutations (32 FMEN1 and eight sporadic MEN1) were distributed across the MEN1 gene. Most predicted loss of function of the encoded menin protein, supporting the prediction that MEN1 is a tumor suppressor gene. No MEN1 germline mutation was found in five probands with familial hyperparathyroidism, suggesting that familial hyperparathyroidism often is caused by mutation in another gene or gene(s).

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Authors+Show Affiliations

Agarwal SK
Metabolic Diseases Branch, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA.
Kester MB
No affiliation info available
Debelenko LV
No affiliation info available
Heppner C
No affiliation info available
Emmert-Buck MR
No affiliation info available
Skarulis MC
No affiliation info available
Doppman JL
No affiliation info available
Kim YS
No affiliation info available
Lubensky IA
No affiliation info available
Zhuang Z
No affiliation info available
Green JS
No affiliation info available
Guru SC
No affiliation info available
Manickam P
No affiliation info available
Olufemi SE
No affiliation info available
Liotta LA
No affiliation info available
Chandrasekharappa SC
No affiliation info available
Collins FS
No affiliation info available
Spiegel AM
No affiliation info available
Burns AL
No affiliation info available
Marx SJ
No affiliation info available

MeSH

AdultAgedGerm-Line MutationHumansHyperparathyroidismMiddle AgedMultiple Endocrine Neoplasia Type 1Neoplasm ProteinsPedigreePolymorphism, GeneticProto-Oncogene Proteins

Pub Type(s)

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

Language

eng

PubMed ID

9215689

Citation

Agarwal, S K., et al. "Germline Mutations of the MEN1 Gene in Familial Multiple Endocrine Neoplasia Type 1 and Related States." Human Molecular Genetics, vol. 6, no. 7, 1997, pp. 1169-75.
Agarwal SK, Kester MB, Debelenko LV, et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet. 1997;6(7):1169-75.
Agarwal, S. K., Kester, M. B., Debelenko, L. V., Heppner, C., Emmert-Buck, M. R., Skarulis, M. C., Doppman, J. L., Kim, Y. S., Lubensky, I. A., Zhuang, Z., Green, J. S., Guru, S. C., Manickam, P., Olufemi, S. E., Liotta, L. A., Chandrasekharappa, S. C., Collins, F. S., Spiegel, A. M., Burns, A. L., & Marx, S. J. (1997). Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics, 6(7), 1169-75.
Agarwal SK, et al. Germline Mutations of the MEN1 Gene in Familial Multiple Endocrine Neoplasia Type 1 and Related States. Hum Mol Genet. 1997;6(7):1169-75. PubMed PMID: 9215689.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. AU - Agarwal,S K, AU - Kester,M B, AU - Debelenko,L V, AU - Heppner,C, AU - Emmert-Buck,M R, AU - Skarulis,M C, AU - Doppman,J L, AU - Kim,Y S, AU - Lubensky,I A, AU - Zhuang,Z, AU - Green,J S, AU - Guru,S C, AU - Manickam,P, AU - Olufemi,S E, AU - Liotta,L A, AU - Chandrasekharappa,S C, AU - Collins,F S, AU - Spiegel,A M, AU - Burns,A L, AU - Marx,S J, PY - 1997/7/1/pubmed PY - 1997/7/1/medline PY - 1997/7/1/entrez SP - 1169 EP - 75 JF - Human molecular genetics JO - Hum Mol Genet VL - 6 IS - 7 N2 - Familial multiple endocrine neoplasia type 1 (FMEN1) is an autosomal dominant trait characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other tissues. We recently cloned the MEN1 gene and confirmed its identity by finding mutations in FMEN1. We have now extended our mutation analysis to 34 more unrelated FMEN1 probands and to two related states, sporadic MEN1 and familial hyperparathyroidism. There was a high prevalence of heterozygous germline MEN1 mutations in sporadic MEN1 (8/11 cases) and in FMEN1 (47/50 probands). One case of sporadic MEN1 was proven to be a new MEN1 mutation. Eight different mutations were observed more than once in FMEN1. Forty different mutations (32 FMEN1 and eight sporadic MEN1) were distributed across the MEN1 gene. Most predicted loss of function of the encoded menin protein, supporting the prediction that MEN1 is a tumor suppressor gene. No MEN1 germline mutation was found in five probands with familial hyperparathyroidism, suggesting that familial hyperparathyroidism often is caused by mutation in another gene or gene(s). SN - 0964-6906 UR - https://www.unboundmedicine.com/medline/citation/9215689/Germline_mutations_of_the_MEN1_gene_in_familial_multiple_endocrine_neoplasia_type_1_and_related_states_ L2 - https://academic.oup.com/hmg/article-lookup/doi/10.1093/hmg/6.7.1169 DB - PRIME DP - Unbound Medicine ER -