Hyperparathyroid genes: sequences reveal answers and questions.

[familial hypocalciuric hypercalcemia]

To review hyperparathyroid syndromes and genes .Pertinent original studies from the literature are discussed .Six main hyperparathyroid syndromes are recognized ; 5 are from germline mutations in 4 genes-CASR , MEN 1 , RET , and HRPT 2 . Each hyperparathyroid syndrome was first described around 1965 ; the main gene for each syndrome was identified about 30 years later . Gene identification addressed clinical issues . (1 ) Testing for mutation carriers among affected probands or among unaffected relatives is more robust than prior methods , which were based on syndromal traits such as serum calcium . (2 ) Interpreting a gene test (RET ) could guide an important intervention ; other gene tests could yield useful information for patients and physicians . (3 ) Proving the roles of each gene (in particular , MEN 1 somatic mutations ) provided insights about contributions to many common tumors . (4 ) Clarifying molecular pathways and drugs led , for example , to the CASR -aided development of calcimimetic and calcilytic drugs . (5 ) Explaining novel features , such as the CASR gene encoding a membrane calcium-sensing receptor and its mutations resulting in nonsuppressed parathyroid hormone secretion uncoupled from proliferation , characterized familial hypocalciuric hypercalcemia . (6 ) Disclosing probands without an identifiable mutation promoted searches for other syndromal genes . Subsequently , rare multiple endocrine neoplasia type 1 -like families were shown to have inactivating germline mutations , first of p 27 and subsequently of p 15 , p 18 , or p 21 .T he next frontier in mutation detection is arriving , with possible sequencing of the whole exome or even the whole genome for 1 case or 1 tumor at an affordable cost .

Diseases
Validation

Diseases presenting "neoplasia type" symptom

cowden syndrome

cushing syndrome

familial hypocalciuric hypercalcemia

von hippel-lindau disease

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