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A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome.
J Endocrinol Invest. 2012 Feb; 35(2):124-8.JE

Abstract

AIM

To perform a genetic screening for the multiple endocrine neoplasia type 1 (MEN1) gene mutations in patients affected by an apparently sporadic form of the disease, referred to an internal medicine unit of a large general hospital.

SUBJECTS AND METHODS

In a group of 12 consecutive patients presenting clinical features of MEN type 1 syndrome, we performed a genetic screening for germline MEN1 gene mutations, including complete sequencing of the coding region (exons 2 to 10) and multiplex ligation-dependent probe amplification analysis for large deletion detection.

RESULTS

Among these patients affected by apparently sporadic MEN type 1 syndrome, a targeted clinical history could detect indirect support for a diagnosis of familial condition only in 2 cases. The genetic screening identified pathogenic germline MEN1 gene mutations in 3 patients (25%). A previously unknown 18 base-pair deletion within exon 3, c.564_581delCAATGGGGAGCAGACAGC, resulting in loss of 6 amino acids (pAsp189_Ala194del), was found in heterozygosis in a woman affected by primary hyperparathyroidism and multifocal pancreatic neoplasia.

CONCLUSIONS

Our results underscore the importance of performing genetic testing also in apparently sporadic MEN1 patients and extend the list of molecular variants leading to inactivation of the MEN1 gene.

Authors+Show Affiliations

Internal Medicine Division, Department of Medical and Surgical Sciences, University of Brescia – Spedali Civili of Brescia, Italy. mara.giacche@spedalicivili.brescia.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

22490989

Citation

Giacché, M, et al. "A Novel Menin Gene Deletional Mutation in a Little Series of Italian Patients Affected By Apparently Sporadic Multiple Endocrine Neoplasia Type 1 Syndrome." Journal of Endocrinological Investigation, vol. 35, no. 2, 2012, pp. 124-8.
Giacché M, Panarotto A, Mori L, et al. A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome. J Endocrinol Invest. 2012;35(2):124-8.
Giacché, M., Panarotto, A., Mori, L., Daffini, L., Tacchetti, M. C., Pirola, I., Agabiti Rosei, E., & Castellano, M. (2012). A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome. Journal of Endocrinological Investigation, 35(2), 124-8.
Giacché M, et al. A Novel Menin Gene Deletional Mutation in a Little Series of Italian Patients Affected By Apparently Sporadic Multiple Endocrine Neoplasia Type 1 Syndrome. J Endocrinol Invest. 2012;35(2):124-8. PubMed PMID: 22490989.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel menin gene deletional mutation in a little series of Italian patients affected by apparently sporadic multiple endocrine neoplasia type 1 syndrome. AU - Giacché,M, AU - Panarotto,A, AU - Mori,L, AU - Daffini,L, AU - Tacchetti,M C, AU - Pirola,I, AU - Agabiti Rosei,E, AU - Castellano,M, PY - 2012/4/12/entrez PY - 2012/4/12/pubmed PY - 2012/8/9/medline SP - 124 EP - 8 JF - Journal of endocrinological investigation JO - J Endocrinol Invest VL - 35 IS - 2 N2 - AIM: To perform a genetic screening for the multiple endocrine neoplasia type 1 (MEN1) gene mutations in patients affected by an apparently sporadic form of the disease, referred to an internal medicine unit of a large general hospital. SUBJECTS AND METHODS: In a group of 12 consecutive patients presenting clinical features of MEN type 1 syndrome, we performed a genetic screening for germline MEN1 gene mutations, including complete sequencing of the coding region (exons 2 to 10) and multiplex ligation-dependent probe amplification analysis for large deletion detection. RESULTS: Among these patients affected by apparently sporadic MEN type 1 syndrome, a targeted clinical history could detect indirect support for a diagnosis of familial condition only in 2 cases. The genetic screening identified pathogenic germline MEN1 gene mutations in 3 patients (25%). A previously unknown 18 base-pair deletion within exon 3, c.564_581delCAATGGGGAGCAGACAGC, resulting in loss of 6 amino acids (pAsp189_Ala194del), was found in heterozygosis in a woman affected by primary hyperparathyroidism and multifocal pancreatic neoplasia. CONCLUSIONS: Our results underscore the importance of performing genetic testing also in apparently sporadic MEN1 patients and extend the list of molecular variants leading to inactivation of the MEN1 gene. SN - 1720-8386 UR - https://www.unboundmedicine.com/medline/citation/22490989/A_novel_menin_gene_deletional_mutation_in_a_little_series_of_Italian_patients_affected_by_apparently_sporadic_multiple_endocrine_neoplasia_type_1_syndrome_ DB - PRIME DP - Unbound Medicine ER -