1999
DOI: 10.1038/sj.ejhg.5200336
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Genetic and clinical analysis in 10 Spanish patients with multiple endocrine neoplasia type 1

Abstract: Multiple endocrine neoplasia type 1 (MEN 1) is characterised by the combination of tumours of the parathyroid, endocrine pancreas and anterior pituitary glands. In 1988 the MEN 1 gene was mapped to chromosome 11q13 and it was cloned in 1997. This gene contains 10 exons and extends across 9 Kb of genomic DNA; it encodes for a product of 610 amino acid named menin whose function is unknown. We have studied 10 unrelated MEN 1 kindreds by a complete sequencing analysis of the entire gene; mutations were identified… Show more

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Cited by 13 publications
(10 citation statements)
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“…Each family showed a different alteration and 10 out of 25 mutations had not been previously described (40%) (table 1). Some of these results have been partly described by Cebrián et al 19 Three of them generated a change of amino acid: H139P (F38), E45K (F52), and A49F (F64). In order to rule out that the missense mutations not previously described (H139P and A49F) were benign polymorphisms, we performed the study in 200 independent alleles of the control population by means of CSGE and these variants were not present, suggesting the pathogenic character of the change.…”
Section: Germline Men1 Mutations In Familial Men1mentioning
confidence: 84%
“…Each family showed a different alteration and 10 out of 25 mutations had not been previously described (40%) (table 1). Some of these results have been partly described by Cebrián et al 19 Three of them generated a change of amino acid: H139P (F38), E45K (F52), and A49F (F64). In order to rule out that the missense mutations not previously described (H139P and A49F) were benign polymorphisms, we performed the study in 200 independent alleles of the control population by means of CSGE and these variants were not present, suggesting the pathogenic character of the change.…”
Section: Germline Men1 Mutations In Familial Men1mentioning
confidence: 84%
“…2). Nine of them had been reported by Cebrián et al (1999): 5 deletions in exons 2 and 10; 1 insertion in exon 2; 1 insertion/deletion in exon 4; 2 nonsense mutations in exons 3 and 7. The remaining two patients had previously described alterations: a polymorphism in codon 541 (Chandrasekharappa et al 1997;Agarwal et al 1997;Sato et al 1998;Tanaka et al 1998) and a nucleotide substitution in the donor site of a splice in intron 6 (Mutch et al 1999).…”
Section: Resultsmentioning
confidence: 99%
“…The nine coding exons of the MEN1 gene were amplified with oligonucleotide primers under conditions previously described (European Consortium on MEN1 1997; Cebrián et al 1999). We optimized four multiplex amplifications to hasten the CSGE analysis: exon 2 ϩ exon 5-6, exon 3 ϩ exon 10, exon 7 ϩ exon 8, and exon 9 ϩ exon 4.…”
Section: Dna Amplificationmentioning
confidence: 99%
See 1 more Smart Citation
“…Although thyroid adenomas and lipomas all can occur [2,3], there is no major malignant thyroid involvement in MEN-1 (see [1][2][3][4] for further details).…”
mentioning
confidence: 99%