Identification of a second kindred with familial hypocalciuric hypercalcemia type 3 (FHH3) narrows localization to a <3.5 megabase pair region on chromosome 19q13.3.

The Journal of Clinical Endocrinology and Metabolism
M Andrew NesbitR V Thakker

Abstract

Familial hypocalciuric hypercalcemia (FHH) is a genetically heterogenous disorder that consists of three defined types, FHH1, FHH2, and FHH3 whose chromosomal locations are 3q21.1, 19p, and 19q13, respectively. FHH1, caused by mutations of the calcium-sensing receptor (CASR), occurs in more than 65% of patients, whereas the abnormalities underlying FHH2 and FHH3, which have each been described in single North American kindreds, are unknown. The aim of this study was to determine the basis of FHH in a proband, who did not have CASR mutations, and her kindred. The proband was a 43-yr-old woman who presented with a corrected serum calcium of 2.74 mmol/liter (normal = 2.15-2.55 mmol/liter), a serum PTH of 47 pg/ml (normal = 10-65 pg/ml), and a urinary calcium clearance:creatinine clearance of 0.006. She did not have a CASR mutation within the coding region and splice sites, and 24 members from three generations of her kindred were ascertained and investigated for serum abnormalities and cosegregation with polymorphic loci from chromosomes 3q21.1 and 19q13 using leukocyte DNA. Sixteen members were hypercalcemic with normal or elevated serum PTH concentrations and mild hypophosphatemia, features consistent with FHH3. Use of microsate...Continue Reading

References

Sep 1, 1992·The Journal of Clinical Endocrinology and Metabolism·H HeathJ T Penniston
Dec 1, 1995·Nature Genetics·L K AshworthA V Carrano
Jun 1, 1994·Nature Genetics·G GyapayJ Weissenbach
May 26, 1995·The Journal of Biological Chemistry·J E GarrettF Fuller
Dec 1, 1995·The Journal of Clinical Investigation·S H PearceM P Whyte
Jan 23, 1999·American Journal of Human Genetics·S E LloydR V Thakker
Apr 2, 2004·Nature·Jane GrimwoodSusan M Lucas
Aug 22, 2006·Molecular Genetics and Metabolism·Naibedya Chattopadhyay, Edward M Brown

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Citations

Jul 17, 2013·Best Practice & Research. Clinical Endocrinology & Metabolism·Fadil M Hannan, Rajesh V Thakker
Dec 12, 2012·Nature Genetics·M Andrew NesbitRajesh V Thakker
Jul 6, 2010·Current Opinion in Pediatrics·Steven A LietmanMichael A Levine
May 25, 2012·Kidney International·Silvia FerrèRené J M Bindels
Apr 17, 2012·Clinical Biochemistry·Bryan K WardThomas Ratajczak
Jun 24, 2016·European Journal of Endocrinology·Sirpa TenholaOuti Mäkitie
Sep 21, 2016·Journal of Molecular Endocrinology·Fadil M HannanRajesh V Thakker
Oct 12, 2011·Current Opinion in Endocrinology, Diabetes, and Obesity·Signe E ChristensenLeif Mosekilde
Apr 12, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Jeena VargheseCamilo Jimenez
Apr 2, 2011·Endocrine Practice : Official Journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists·Stephen J Marx
Apr 24, 2014·Annals of the New York Academy of Sciences·Diego Martinelli, Carlo Dionisi-Vici
Dec 4, 2016·European Journal of Endocrinology·Silje HovdenPeter H Nissen

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