title: A novel germline mutation of MEN 1 gene in a patient with acromegaly and multiple endocrine tumors.
abstract: Germline mutations of the MEN 1 gene are responsible for multiple endocrine neoplasia type 1 (MEN 1), a dominantly inherited cancer syndrome characterized by tumors of the parathyroids, gastro-intestinal endocrine tissue, anterior pituitary and other endocrine tissues. We report on a 55-yr old woman, presenting with active acromegaly (due to GH-secreting microadenoma), associated to bilateral adrenal adenomatosis and Hürthle-cell thyroid neoplasia. No evidence of hyperparathyroidism or gastrin-secreting tumor was found. Peripheral blood genomic DNA was extracted, amplified by PCR, purified and analyzed by direct sequencing. The analysis revealed a heterozygous mutation in exon 4 of the MEN 1 gene: a G to A missense mutation at codon 229 (CGC-->CAC), which changes arginine to histidine. This mutation causes loss of the Hhal restriction site and can thus be employed for a rapid familiar screening. This case represents a newly recognized germline mutation of the MEN 1 gene.
authors.affiliation: University of Cagliari, Cagliari, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Pinna
authors.forename: G
authors.initials: G
authors.lastname: Orgiana
authors.forename: C
authors.initials: C
authors.lastname: Carcassi
authors.forename: F
authors.initials: F
authors.lastname: Alba
authors.forename: F
authors.initials: F
authors.lastname: Cetani
authors.forename: E
authors.initials: E
authors.lastname: Pardi
authors.forename: C
authors.initials: C
authors.lastname: Marcocci
authors.forename: S
authors.initials: S
authors.lastname: Mariotti
mesh_terms: D000172:Acromegaly / Q000235:genetics*; D000236:Adenoma / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*
chemical_list: C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins
references.citation: Eur J Endocrinol. 1999 Nov;141(5):475-80
references.pmid: 10576763
references.citation: Eur J Endocrinol. 2000 Feb;142(2):138-43
references.pmid: 10664521
references.citation: Int J Cancer. 1999 Jan 29;80(3):373-9
references.pmid: 9935177
references.citation: J Clin Endocrinol Metab. 1998 Mar;83(3):960-5
references.pmid: 9506756
references.citation: Cancer Lett. 1999 Jul 19;142(1):105-10
references.pmid: 10424788
references.citation: Eur J Endocrinol. 1998 Oct;139(4):416-20
references.pmid: 9820618
references.citation: J Mol Med (Berl). 1998 Nov-Dec;76(12):837-9
references.pmid: 9846954
references.citation: Surgery. 1999 Dec;126(6):1097-103; discussion 1103-4
references.pmid: 10598193
references.citation: J Clin Endocrinol Metab. 1998 Apr;83(4):1388-91
references.pmid: 9543172
references.citation: J Clin Endocrinol Metab. 1998 Aug;83(8):2627-30
references.pmid: 9709922
references.citation: J Clin Endocrinol Metab. 2000 Jan;85(1):165-7
references.pmid: 10634381
references.citation: Diagn Mol Pathol. 1999 Dec;8(4):195-204
references.pmid: 10617276
references.citation: Hum Mutat. 2001 Mar;17(3):237
references.pmid: 11241849
references.citation: Lab Invest. 1999 Mar;79(3):301-10
references.pmid: 10092066
references.citation: Am J Hum Genet. 1998 Nov;63(5):1544-9
references.pmid: 9792884
references.citation: Science. 1997 Apr 18;276(5311):404-7
references.pmid: 9103196
references.citation: Hum Mol Genet. 1997 Dec;6(13):2285-90
references.pmid: 9361035
references.citation: J Endocrinol Invest. 2000 May;23(5):304-9
references.pmid: 10882148
references.citation: Recent Prog Horm Res. 1999;54:397-438; discussion 438-9
references.pmid: 10548885
references.citation: Cancer Res. 1997 Dec 15;57(24):5446-51
references.pmid: 9407947
references.citation: Cell. 1999 Jan 8;96(1):143-52
references.pmid: 9989505
references.citation: Am J Hum Genet. 1998 Aug;63(2):455-67
references.pmid: 9683585
references.citation: Endocr Relat Cancer. 1999 Dec;6(4):449-73
references.pmid: 10730900
references.citation: J Clin Endocrinol Metab. 1998 Aug;83(8):3004-5
references.pmid: 9709985
references.citation: Eur J Endocrinol. 1999 May;140(5):429-33
references.pmid: 10229909
references.citation: Hum Mol Genet. 1997 Jul;6(7):1177-83
references.pmid: 9215690
references.citation: Hum Mol Genet. 1997 Jul;6(7):1169-75
references.pmid: 9215689
references.citation: Endocr Rev. 1987 Nov;8(4):391-405
references.pmid: 2891500
references.citation: QJM. 1996 Sep;89(9):653-69
references.pmid: 8917740
references.citation: Am J Med. 1954 Mar;16(3):363-71
references.pmid: 13138607
references.citation: J Clin Endocrinol Metab. 2002 Jan;87(1):166-75
references.pmid: 11788642
references.citation: J Clin Endocrinol Metab. 1998 Aug;83(8):2621-6
references.pmid: 9709921
references.citation: Endocrine. 2000 Jun;12(3):223-6
references.pmid: 10963041
references.citation: Am J Med Genet. 1998 Nov 16;80(3):221-2
references.pmid: 9843042
references.citation: Hum Mutat. 1999;13(3):175-85
references.pmid: 10090472
references.citation: J Med Genet. 1998 Nov;35(11):915-9
references.pmid: 9832038
references.citation: Eur J Endocrinol. 1997 Dec;137(6):684-7
references.pmid: 9437237
references.citation: Eur J Endocrinol. 2000 Feb;142(2):131-7
references.pmid: 10664520
references.citation: J Clin Endocrinol Metab. 1998 Aug;83(8):2960-3
references.pmid: 9709976
references.citation: Br J Cancer. 2000 Oct;83(8):1009-14
references.pmid: 10993647
references.citation: J Hum Genet. 1998;43(3):199-201
references.pmid: 9747036
references.citation: Hum Mutat. 2000 Nov;16(5):445
references.pmid: 11058905
references.citation: Am J Hum Genet. 1998 Feb;62(2):232-44
references.pmid: 9463336