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Common ancestral mutations in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1 Burin ) in four kindreds from Newfoundland
Author(s) -
Olufemi ShodimuEmmanuel,
Green Jane S.,
Manickam Pachiappan,
Guru Siradanahalli C.,
Agarwal Sunita K.,
Kester Mary Beth,
Dong Qihan,
Burns A. Lee,
Spiegel Allen M.,
Marx Stephen J.,
Collins Francis S.,
Chandrasekharappa Settara C.
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:4<264::aid-humu2>3.0.co;2-v
Subject(s) - men1 , multiple endocrine neoplasia , biology , haplotype , genetics , locus (genetics) , nonsense mutation , gene , prolactinoma , mutation , allele , missense mutation , endocrinology , prolactin , hormone
Familial multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder with affected individuals developing parathyroid, gastrointestinal (GI) endocrine, and anterior pituitary tumors. Four large kindreds from the Burin peninsula/Fortune Bay area of Newfoundland with prominent features of prolactinomas, carcinoids, and parathyroid tumors (referred to as MEN1 Burin ) have been described, and they show linkage to 11q13, the same locus as that of MEN1. Haplotype analysis with 16 polymorphic markers now reveals that representative affected individuals from all four families share a common haplotype over a 2.5 Mb region. A nonsense mutation in the MEN1 gene has been found to be responsible for the disease in the affected members in all four of the MEN1 Burin families, providing convincing evidence of a common founder. Hum Mutat 11:264–269, 1998. Published 1998 Wiley‐Liss, Inc.