Concolino Paola, Rossodivita Aurora, Carrozza Cinzia, Raffaelli Marco, Lombardi Celestino Pio, Rigante Donato, Pitocco Dario, Stabile Achille, Bellantone Rocco, Zuppi Cecilia, Capoluongo Ettore
Laboratory of Molecular Biology, Institute of Biochemistry and Clinical Biochemistry, Catholic University, Rome, Italy.
Clin Chem Lab Med. 2008;46(6):824-6. doi: 10.1515/CCLM.2008.165.
This report describes clinical, biochemical and molecular findings regarding two Italian monozygotic twins carrying a novel multiple endocrine neoplasia type 1 (MEN1) mutation inherited from their mother.
Clinical, biochemical and genetic evaluations of the above-mentioned family members were performed.
All three members were heterozygous for a deletion involving the first nucleotide at codon 98 in exon 2 of the MEN1 gene, which results in early termination of the protein. The clinical phenotypes were as follows: one out of the two twins suffered from insulinoma and hyperparathyroidism, while the second one was asymptomatic. Furthermore, the mother suffered from hyperparathyroidism, as well as from hypergastrinemia for several years before the daughter was diagnosed of MEN-1.
We describe a family with a new heterozygous mutation (g.292delC) in the MEN1 gene not described previously. The mutation leads to a truncated protein without activity, explaining the clinical picture of this family.
本报告描述了关于两名携带从其母亲遗传而来的新型1型多发性内分泌肿瘤（MEN1）突变的意大利同卵双胞胎的临床、生化和分子学研究结果。
对上述家庭成员进行了临床、生化和基因评估。
所有三名成员均为MEN1基因第2外显子第98密码子处第一个核苷酸缺失的杂合子，这导致蛋白质提前终止。临床表型如下：两名双胞胎中的一名患有胰岛素瘤和甲状旁腺功能亢进，而另一名无症状。此外，在女儿被诊断为MEN-1之前，母亲患有甲状旁腺功能亢进以及高胃泌素血症数年。
我们描述了一个具有MEN1基因新杂合突变（g.292delC）的家系，该突变此前未被描述。该突变导致产生无活性的截短蛋白，解释了这个家系的临床表现。
