Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland

Shodimu Emmanuel Olufemi; Jane S. Green; Pachiappan Manickam; Siradanahalli C. Guru; Sunita K. Agarwal; Mary Beth Kester; Qihan Dong; A. Lee Burns; Allen M. Spiegel; Stephen J. Marx; Francis S. Collins; Settara C. Chandrasekharappa

doi:10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland

Shodimu Emmanuel Olufemi, Jane S. Green, Pachiappan Manickam, Siradanahalli C. Guru, Sunita K. Agarwal, Mary Beth Kester, Qihan Dong, A. Lee Burns, Allen M. Spiegel, Stephen J. Marx, Francis S. Collins, Settara C. Chandrasekharappa

Research output: Contribution to journal › Article › peer-review

106 Scopus citations

Abstract

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.

Original language	English (US)
Pages (from-to)	264-269
Number of pages	6
Journal	Human Mutation
Volume	11
Issue number	4
DOIs	https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V
State	Published - 1998
Externally published	Yes

Keywords

Founder effect
MEN1 gene
MEN1(Burin)
Menin
Newfoundland
Prolactinoma

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

Cite this

Olufemi, S. E., Green, J. S., Manickam, P., Guru, S. C., Agarwal, S. K., Kester, M. B., Dong, Q., Burns, A. L., Spiegel, A. M., Marx, S. J., Collins, F. S., & Chandrasekharappa, S. C. (1998). Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland. Human Mutation, 11(4), 264-269. https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

Olufemi, SE, Green, JS, Manickam, P, Guru, SC, Agarwal, SK, Kester, MB, Dong, Q, Burns, AL, Spiegel, AM, Marx, SJ, Collins, FS & Chandrasekharappa, SC 1998, 'Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland', Human Mutation, vol. 11, no. 4, pp. 264-269. https://doi.org/10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

@article{b844af5e8ead4ee99e36f095d60305e5,

title = "Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland",

abstract = "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.",

keywords = "Founder effect, MEN1 gene, MEN1(Burin), Menin, Newfoundland, Prolactinoma",

author = "Olufemi, {Shodimu Emmanuel} and Green, {Jane S.} and Pachiappan Manickam and Guru, {Siradanahalli C.} and Agarwal, {Sunita K.} and Kester, {Mary Beth} and Qihan Dong and Burns, {A. Lee} and Spiegel, {Allen M.} and Marx, {Stephen J.} and Collins, {Francis S.} and Chandrasekharappa, {Settara C.}",

year = "1998",

doi = "10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V",

language = "English (US)",

volume = "11",

pages = "264--269",

journal = "Human Mutation",

issn = "1059-7794",

publisher = "Wiley-Liss Inc.",

number = "4",

}

TY - JOUR

T1 - Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland

AU - Olufemi, Shodimu Emmanuel

AU - Green, Jane S.

AU - Manickam, Pachiappan

AU - Guru, Siradanahalli C.

AU - Agarwal, Sunita K.

AU - Kester, Mary Beth

AU - Dong, Qihan

AU - Burns, A. Lee

AU - Spiegel, Allen M.

AU - Marx, Stephen J.

AU - Collins, Francis S.

AU - Chandrasekharappa, Settara C.

PY - 1998

Y1 - 1998

N2 - 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.

AB - 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.

KW - Founder effect

KW - MEN1 gene

KW - MEN1(Burin)

KW - Menin

KW - Newfoundland

KW - Prolactinoma

UR - http://www.scopus.com/inward/record.url?scp=7144229389&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=7144229389&partnerID=8YFLogxK

U2 - 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

DO - 10.1002/(SICI)1098-1004(1998)11:4<264::AID-HUMU2>3.0.CO;2-V

M3 - Article

C2 - 9554741

AN - SCOPUS:7144229389

SN - 1059-7794

VL - 11

SP - 264

EP - 269

JO - Human Mutation

JF - Human Mutation

IS - 4

ER -

Common ancestral mutation in the MEN1 gene is likely responsible for the prolactinoma variant of MEN1 (MEN1(Burin)) in four kindreds from Newfoundland

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this