Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression (852 views)
Fam Cancer (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.
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Paper type: Journal Article,
Impact factor: 1.977, 5-year impact factor: 1.792
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84903277879&partnerID=40&md5=bcf0a05162f977360238ceee1db077f6
Keywords: Gene Deletions, Genetic Analysis, Men1, Mlpa, Quantitative Pcr, Menin Protein, Tumor Protein, Unclassified Drug, Adult, Aged, Article, Case Report, Controlled Study, Copy Number Variation, Exon, Familial Cancer, Female, Gene Function, Gene Mutation, Human, Human Tissue, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 1 Gene, Multiplex Ligation Dependent Probe Amplification, Phenotype, Priority Journal, Protein Depletion, Protein Expression, Real Time Polymerase Chain Reaction, Sequence Analysis, Tumor Gene, Young Adult,
Affiliations:
*** IBB - CNR ***
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Via Savonarola 9, 44100 Ferrara, Italy
LTTA, University of Ferrara, Via Fossato di Mortara 70, 44100 Ferrara, Italy
Department of Clinical Genetics, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Section of Pathology, Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy
References:
Not available.
Fam Cancer (ISSN: 1389-9600), 2014 Jun; 13(2): 273-280.
Export to BibTeX Export to EndNote
Paper type: Journal Article,
Impact factor: 1.977, 5-year impact factor: 1.792
Url: http://www.scopus.com/inward/record.url?eid=2-s2.0-84903277879&partnerID=40&md5=bcf0a05162f977360238ceee1db077f6
Keywords: Gene Deletions, Genetic Analysis, Men1, Mlpa, Quantitative Pcr, Menin Protein, Tumor Protein, Unclassified Drug, Adult, Aged, Article, Case Report, Controlled Study, Copy Number Variation, Exon, Familial Cancer, Female, Gene Function, Gene Mutation, Human, Human Tissue, Middle Aged, Multiple Endocrine Neoplasia, Multiple Endocrine Neoplasia Type 1 Gene, Multiplex Ligation Dependent Probe Amplification, Phenotype, Priority Journal, Protein Depletion, Protein Expression, Real Time Polymerase Chain Reaction, Sequence Analysis, Tumor Gene, Young Adult,
Affiliations:
*** IBB - CNR ***
Section of Endocrinology, Department of Medical Sciences, University of Ferrara, Via Savonarola 9, 44100 Ferrara, Italy
LTTA, University of Ferrara, Via Fossato di Mortara 70, 44100 Ferrara, Italy
Department of Clinical Genetics, University of Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Department of Endocrinology, Centre Hospitalier Universitaire de Liège, Domaine Universitaire du Sart-Tilman, 4000 Liège, Belgium
Section of Pathology, Department of Morphology, Surgery and Experimental Medicine, University of Ferrara, Ferrara, Italy
References:
Not available.
Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. © 2014 Springer Science+Business Media.
Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors and pituitary adenomas, due to inactivating mutations of the MEN1 gene (chromosome 11q13). MEN1 mutations are mainly represented by nonsense, deletions/insertions, splice site or missense mutations that can be detected by direct sequencing of genomic DNA. However, MEN1 patients with large heterozygous deletions may escape classical genetic screening and may be misidentified as phenocopies, thereby hindering proper clinical surveillance. We employed a real-time polymerase chain reaction application, the TaqMan copy number variation assay, to evaluate a family in which we failed to identify an MEN1 mutation by direct sequencing, despite a clear clinical diagnosis of MEN1 syndrome. Using the TaqMan copy number variation assay we identified a large deletion of the MEN1 gene involving exons 1 and 2, in three affected family members, but not in the other nine family members that were to date clinically unaffected. The same genetic alteration was not found in a group of ten unaffected subjects, without family history of endocrine tumors. The MEN1 deletion was further confirmed by multiplex ligation-dependent probe amplification, which showed the deletion extended from exon 1 to exon 3. This new approach allowed us to correctly genetically diagnose three clinical MEN1 patients that were previously considered as MEN1 phenocopies. More importantly, we excluded the presence of genetic alterations in the unaffected family members. These results underline the importance of using a variety of available biotechnology approaches when pursuing a genetic diagnosis in a clinically suggestive setting of inherited endocrine cancer. © 2014 Springer Science+Business Media.
Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
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Deletion of exons 1-3 of the MEN1 gene in a large Italian family causes the loss of menin expression
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7 Records (6 excluding Abstracts).
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Total 5 year impact factor: 57.658 (46.305 excluding Abstracts).
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