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Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism.
World J Surg. 2002 Aug; 26(8):907-13.WJ

Abstract

A large number of families with familial isolated hyperparathyroidism (FIHP) have been reported. We wanted to determine if some of these families represent early manifestations of full-blown syndromes such as multiple endocrine neoplasia type 1 (MEN-1), as early identification may alter surgical and medical management. Four small families with a family history of hyperparathyroidism without clear-cut MEN-1 features were screened for a MEN1 mutation. The 10 exons of the MEN1 gene were amplified and analyzed by single-strand conformation analysis (SSCA). Abnormal SSCA shifts were then sequenced using an automated sequencer. Two germline mutations were found: R527X and P277H. The former was detected in three members of a family consisting of two children and a mother. At the time of testing the youngest son was normocalcemic and clinically normal but subsequently developed hyperparathyroidism (HPT). Since the initial testing, the family has been confirmed to be a MEN-1 family as the mother has developed abdominal pain and an elevated serum pancreatic polypeptide and the younger brother an anterior pituitary tumor and recurrent HPT. The latter P277H mutation was identified in two of three members tested from another family. Manifestations of MEN-1 syndrome have also developed. The father now has developed diarrhea and elevated serum gastrin; and the daughter has developed recurrent HPT. Genetic screening of families who clinically have FIHP is important and may influence the type of medical and surgical treatment and follow-up, as some have MEN-1 syndrome. Long-term screening for MEN syndromes should be included in this set of patients. Positive screening may predict disease and allow early detection and appropriate treatment before initiation of symptoms.

Authors+Show Affiliations

Department of Surgery, Division of Surgical Oncology, Wake Forest University Medical Center, Medical Center Boulevard, Winston-Salem, North Carolina 27157, USA. nperrier@wfubmc.eduNo 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
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

12016470

Citation

Perrier, Nancy D., et al. "Genetic Screening for MEN1 Mutations in Families Presenting With Familial Primary Hyperparathyroidism." World Journal of Surgery, vol. 26, no. 8, 2002, pp. 907-13.
Perrier ND, Villablanca A, Larsson C, et al. Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. World J Surg. 2002;26(8):907-13.
Perrier, N. D., Villablanca, A., Larsson, C., Wong, M., Ituarte, P., Teh, B. T., & Clark, O. H. (2002). Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. World Journal of Surgery, 26(8), 907-13.
Perrier ND, et al. Genetic Screening for MEN1 Mutations in Families Presenting With Familial Primary Hyperparathyroidism. World J Surg. 2002;26(8):907-13. PubMed PMID: 12016470.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic screening for MEN1 mutations in families presenting with familial primary hyperparathyroidism. AU - Perrier,Nancy D, AU - Villablanca,Andrea, AU - Larsson,Catharina, AU - Wong,Mariwil, AU - Ituarte,Philip, AU - Teh,Bin Tean, AU - Clark,Orlo H, Y1 - 2002/05/21/ PY - 2002/5/23/pubmed PY - 2002/12/4/medline PY - 2002/5/23/entrez SP - 907 EP - 13 JF - World journal of surgery JO - World J Surg VL - 26 IS - 8 N2 - A large number of families with familial isolated hyperparathyroidism (FIHP) have been reported. We wanted to determine if some of these families represent early manifestations of full-blown syndromes such as multiple endocrine neoplasia type 1 (MEN-1), as early identification may alter surgical and medical management. Four small families with a family history of hyperparathyroidism without clear-cut MEN-1 features were screened for a MEN1 mutation. The 10 exons of the MEN1 gene were amplified and analyzed by single-strand conformation analysis (SSCA). Abnormal SSCA shifts were then sequenced using an automated sequencer. Two germline mutations were found: R527X and P277H. The former was detected in three members of a family consisting of two children and a mother. At the time of testing the youngest son was normocalcemic and clinically normal but subsequently developed hyperparathyroidism (HPT). Since the initial testing, the family has been confirmed to be a MEN-1 family as the mother has developed abdominal pain and an elevated serum pancreatic polypeptide and the younger brother an anterior pituitary tumor and recurrent HPT. The latter P277H mutation was identified in two of three members tested from another family. Manifestations of MEN-1 syndrome have also developed. The father now has developed diarrhea and elevated serum gastrin; and the daughter has developed recurrent HPT. Genetic screening of families who clinically have FIHP is important and may influence the type of medical and surgical treatment and follow-up, as some have MEN-1 syndrome. Long-term screening for MEN syndromes should be included in this set of patients. Positive screening may predict disease and allow early detection and appropriate treatment before initiation of symptoms. SN - 0364-2313 UR - https://www.unboundmedicine.com/medline/citation/12016470/Genetic_screening_for_MEN1_mutations_in_families_presenting_with_familial_primary_hyperparathyroidism_ L2 - https://dx.doi.org/10.1007/s00268-002-6617-9 DB - PRIME DP - Unbound Medicine ER -