Endocrine Abstracts

The hyperparathyroidism-jaw tumour (HPT-JT) syndrome is an autosomal dominant disease characterised by the occurrence of parathyroid tumours, which are often carcinomas, and fibro-osseous tumours of the jaw bones. The HPT-JT gene is on chromosome 1q25 and consists of 17 exons that encode a 531 amino-acid protein, designated PARAFIBROMIN (Nature Genetics, in press). Thirteen heterozygous germline mutations that result in truncated or inactivated forms of PARAFIBROMIN have been ...