Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain
| Autor: | Carmen Orellana, Miguel A. Rubio, Luis Castaño, Guiomar Perez de Nanclares, Federico Vázquez, Juan Francisco Merino-Torres, CARMEN GUILLEN PONCE, SONIA GAZTAMBIDE, Gustavo Perez de Nanclares |
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| Rok vydání: | 2012 |
| Předmět: |
Genetics
congenital hereditary and neonatal diseases and abnormalities endocrine system medicine.medical_specialty endocrine system diseases medicine.diagnostic_test Endocrinology Diabetes and Metabolism Biology medicine.disease Frameshift mutation Endocrinology Internal medicine Mutation (genetic algorithm) medicine Missense mutation MEN1 Gene Mutation MEN1 Multiple endocrine neoplasia Gene Genetic testing |
| Zdroj: | Clinical Endocrinology. 76:719-724 |
| ISSN: | 0300-0664 |
| DOI: | 10.1111/j.1365-2265.2011.04269.x |
| Popis: | Summary Context Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominant disorder mostly owing to a genetic defect in MEN1 gene. Not all patients with MEN1 phenotype present a defect in this gene. Thus, other genes like CDKN and AIP have been showed to be involved in MEN1-like patients. Objective The aim of this study was to perform a genetic screening in our cohort or patients with suspected MEN1 syndrome by direct sequencing analysis of MEN1, CDKN1B and AIP, and dosage analysis of MEN1 and AIP. Results A total of 79 different sporadic and familial cases with the MEN1 phenotype have been studied, in which 34 of them (48%) present a mutation in MEN1 gene. In two patients without a detectable mutation in MEN1 gene, we have identified a novel missense mutation (c.163G>A/p.Ala55Thr) in CDKN1B gene and a novel frameshift mutation (c.825_845delCGCGGCCGTGTGGAATGCCCA/p. His275GlnfsX49) in AIP gene, respectively. Conclusions Our data support that MEN1 gene is the main target for genetic analysis in clinical MEN1 syndrome. We confirm that in those patients without MEN1 gene mutation, other genes such as CDKN1B/p27Kip, or AIP in those including pituitary tumours should also be tested. |
| Databáze: | OpenAIRE |
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