Germline succinate dehydrogenase subunit D mutation segregating with familial non-RET C cell hyperplasia

• Tipo: Artigo em Revista Científica Internacional
• Data: 2003

Autores

Lima, J (Autor) Outra; Teixeira Gomes, J (Autor) Outra; Soares, P (Autor) FMUP; Maximo, V (Autor) Outra; Honavar, M (Autor) Outra; Williams, D (Autor) Outra; Sobrinho Simoes, M (Autor) FMUP

Revista

Título: Journal of Clinical Endocrinology and Metabolism

Vol. 88

Páginas: 4932-4937

ISSN: 0021-972X

Editora: Endocrine Society

Indexação

ISI Web of Knowledge - 21 Citações

Scopus - 22 Citações

Classificação Científica

FOS: Ciências médicas e da saúde > Medicina clínica

Outras Informações

ID Authenticus: P-000-F07

DOI: 10.1210/jc.2002-030008

Abstract (EN): C cell hyperplasia is associated with medullary carcinoma of the thyroid in the inherited MEN2 syndromes, in which the great majority of cases have been shown to be due to a mutation in the RET oncogene. We report a study of a family with C cell hyperplasia and hypercalcitoninemia in which no cases of medullary carcinoma have yet occurred and which lacked an identifiable causative RET mutation. Four of the family members showed hypercalcitoninemia, and marked C cell hyperplasia was present in each of the three in whom thyroidectomy has been performed. We investigated the possible involvement of the SDHD gene, because somatic and germline mutations in this gene have been found in a variety of tumors of neural crest-derived tissue. A germline mutation in exon 2 of the SDHD gene (c149 A-G, His 50 Arg) was found in six members of the family; all the four available members with hypercalcitoninemia possessed the mutation. One of the five available members without hypercalcitoninemia, an 18-yr-old female, also showed the mutation. We conclude that we have identified a new syndrome, characterized by familial non-RET C cell hyperplasia. Our studies suggest that a mutation in SDHD may be causative. These observations have implications for apparently incidental cases of hypercalcitoninemia or C cell hyperplasia.

Idioma: Inglês

Tipo (Avaliação Docente): Científica

Nº de páginas: 6