Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2

Figure 3

Pedigree of an Italian kindred positive for a germline MEN 1 missense mutation (T344R) in exon 10 (unpublished data). Generation numbers are represented by Roman numerals and individual numbers are in Arabic numerals. The proband, II-3, presents all the main MEN 1 endocrine manifestations; the sister, II-2, does not present pituitary lesions, but has nonendocrine lesions, such as a tumor of CNS and an angioma. Proband’s mother, I-2, has only primary hyperparathyroidism, supporting the lack for a genotype-phenotype correlation.