MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1
| العنوان: | MEN1 gene mutations in Hungarian patients with multiple endocrine neoplasia type 1 |
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| المؤلفون: | Zsuzsa Valkusz, Attila Patócs, Miklós Tóth, Katalin Balogh, László Hunyady, Károly Rácz, Peter Gergics |
| المصدر: | Clinical Endocrinology. 67:727-734 |
| بيانات النشر: | Wiley, 2007. |
| سنة النشر: | 2007 |
| مصطلحات موضوعية: | Adult, Male, Heterozygote, congenital, hereditary, and neonatal diseases and abnormalities, endocrine system, medicine.medical_specialty, Adolescent, endocrine system diseases, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Molecular Sequence Data, Mutation, Missense, Biology, Gene mutation, medicine.disease_cause, Polymerase Chain Reaction, Evolution, Molecular, Endocrinology, Germline mutation, Internal medicine, Multiple Endocrine Neoplasia Type 1, medicine, Humans, Missense mutation, MEN1, Genetic Testing, Multiple endocrine neoplasia, Germ-Line Mutation, Aged, Aged, 80 and over, Hungary, Mutation, Polymorphism, Genetic, Base Sequence, Middle Aged, medicine.disease, Phenotype, Case-Control Studies, MEN1 Gene Mutation, Female, Sequence Alignment, Primary hyperparathyroidism |
| الوصف: | Summary Objective Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder associated with mutations of the MEN1 gene. MEN1 may present as a familial or a sporadic disorder, with multiple endocrine tumours including parathyroid adenomas or hyperplasias, and pancreatic endocrine and pituitary gland tumours. The aim of this study was to examine the prevalence and spectrum of MEN1 gene mutations in Hungarian patients with familial and sporadic MEN1 and in those with a MEN1-related state. Design Mutation analysis, using temporal temperature gradient gel electrophoresis and direct sequencing of all coding exons and the corresponding exon–intron boundaries of the MEN1 gene, was performed. Patients and measurements Peripheral blood DNA was obtained from 32 patients (19 index patients with familial or sporadic MEN1 and 13 index patients with familial or sporadic MEN1-related state). First degree relatives were also studied. Results Ten different MEN1 gene mutations were identified in 10 index patients, including four novel mutations (A91V, G28A and E26X all in exon 2, and L301R in exon 6). All but one mutation occurred in index patients with familial or sporadic MEN1; the prevalence of mutation was considerably higher in index patients with familial MEN1 (6/6 patients, 100%) than in those with sporadic MEN1 (3/13 patients, 23%). Of the 13 index patients with a MEN1-related state, only one patient with recurrent isolated primary hyperparathyroidism had a MEN1 gene mutation. Family screening indicated mutations in six symptomatic and in one asymptomatic first degree relative. Conclusion These results confirm previous reports on the high prevalence of novel MEN1 gene mutations among patients with MEN1, and support the questionable efficacy of mutation screening in patients with sporadic MEN1-related states. |
| تدمد: | 1365-2265 0300-0664 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c517f06a9514ce3b9cdb657386c84e8cTest https://doi.org/10.1111/j.1365-2265.2007.02953.xTest |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....c517f06a9514ce3b9cdb657386c84e8c |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 13652265 03000664 |
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