Human Molecular Genetics, Vol 6, 587-590, Copyright © 1997 by Oxford University Press
W Hoppner and MM Ritter
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 pheochromocytoma 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.
ARTICLES
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
Institute for Hormone and Fertility Research, University of Hamburg, Germany.
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