An analysis of genotype--phenotype correlations and variable clinical expression in families with multiple endocrine neoplasia type 1

Agata Jabrocka-Hybel; Anna Skalniak; Jakub Piatkowski; Dorota Pach; Alicja Hubalewska-Dydejczyk

doi:10.1530/endoabs.32.P566

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Endocrine Abstracts (2013) 32 P566 | DOI: 10.1530/endoabs.32.P566

ECE2013 Poster Presentations Endocrine tumours and neoplasia (66 abstracts)

An analysis of genotype--phenotype correlations and variable clinical expression in families with multiple endocrine neoplasia type 1

Agata Jabrocka-Hybel , Anna Skalniak , Jakub Piatkowski , Dorota Pach & Alicja Hubalewska-Dydejczyk

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Department of Endocrinology Jagiellonian University, Krakow, Poland.

Multiple endocrine neoplasia type 1 is an inherited syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. Currently, no clear genotype–phenotype correlation has been established between clinical forms and MEN1 gene mutations. The aim of the study was clinical characteristics in relation to MEN1 gene mutation in families with MEN1 syndrome treated in our department. To date, genetic testing including complete sequencing of the coding region (exons 2–10) showed significant changes in four families with MEN1 syndrome. In each family, different type of mutation was found and only one of them was previously described. Clinical characteristics and aggressiveness of the disorder were different in each family. Our mutations were localized in the following exons: 4 (c.790_795dupCTGCAG), 7 (c.945delG), 9 (c.1246_1248delGCC), 10 (c.1393C>T). Loss of heterozygosity in tumour tissue will be studied by microsatellite analysis in the family with mutation in exon 9 to confirm its significance.