Journal Article

A Duplication of 12 bp in the Critical Cysteine Rich Domain of the <i>RET</i> Proto-Oncogene Results in a Distinct Phenotype of Multiple Endocrine Neoplasia Type 2A

Wolfgang Höppner and Michael M. Ritter

in Human Molecular Genetics

Volume 6, issue 4, pages 587-587
Published in print April 1997 | ISSN: 0964-6906
Published online April 1997 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/6.4.587
A Duplication of 12 bp in the Critical Cysteine Rich Domain of the RET Proto-Oncogene Results in a Distinct Phenotype of Multiple Endocrine Neoplasia Type 2A

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Activating germline mutations in the cysteine-rich domain of the RET proto-oncogene are found in >92% of the cases of multiple endocrine neoplasia type 2A (MEN2A) and 85% of familial medullary thyroid carcinoma (FMTC). In virtually 100% of patients with identified mutations one of five cysteines is altered by a missense mutation. In a MEN2A family with 14 affected and 11 unaffected living members, hypercalcemia was diagnosed in eight patients and histological evaluation revealed parathyroid hyperplasia in all cases examined (10/10). No member of this family showed any evidence for the existence of pheochromocytoma. This is the first documentation of a family without pheochro-mocytoma but with a high incidence of parathyroid disease. Genetic analysis revealed the presence of an unusual heterozygous mutation in exon 11 of the RET proto-oncogene representing a duplication of 12 bp resulting in the insertion of four amino acids between codon 634 (Cys) and 635 (Arg), thus creating an additional cysteine residue.

Journal Article.  2250 words.  Illustrated.

Subjects: Genetics and Genomics

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