Germline mutations affecting G alpha(11) in hypoparathyroidism

Mannstadt, Michael, Harris, Mark, Bravenboer, Bert, Chitturi, Sridhar, Dreijerink, Koen M. A., Lambright, David G., Lim, Elaine T., Daly, Mark J., Gabriel, Stacey and Jüppner, Harald (2013) Germline mutations affecting G alpha(11) in hypoparathyroidism. New England Journal of Medicine, 368 26: 2532-2534. doi:10.1056/NEJMc1300278


Author Mannstadt, Michael
Harris, Mark
Bravenboer, Bert
Chitturi, Sridhar
Dreijerink, Koen M. A.
Lambright, David G.
Lim, Elaine T.
Daly, Mark J.
Gabriel, Stacey
Jüppner, Harald
Title Germline mutations affecting G alpha(11) in hypoparathyroidism
Formatted title
Germline mutations affecting Gα11 in hypoparathyroidism
Journal name New England Journal of Medicine   Check publisher's open access policy
ISSN 0028-4793
1533-4406
Publication date 2013-06-27
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1056/NEJMc1300278
Volume 368
Issue 26
Start page 2532
End page 2534
Total pages 3
Place of publication Boston, MA, United States
Publisher Massachusetts Medical Society
Collection year 2014
Language eng
Formatted abstract
Extracellular calcium levels are tightly regulated by parathyroid hormone (PTH). Insufficient production of this hormone, as observed in nonsyndromic isolated hypoparathyroidism, can be caused by mutations in PTH or the genes encoding the parathyroid-specific transcription factor glial cells missing 2 (GCM2) or the calcium-sensing receptor (CaSR). However, most cases of isolated hypoparathyroidism remain genetically undefined.

We investigated two unrelated white families in which 15 living members had clinical and laboratory findings consistent with autosomal dominant isolated hypoparathyroidism. After ruling out the presence of mutations in CaSR, PTH, and GCM2 in the index cases (not shown), a genomewide scan revealed linkage to a single chromosomal region for Family A (19p13.3; LOD score, 3.0)...
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collections: Non HERDC
School of Medicine Publications
 
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