The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families - PubMed

The gene responsible for familial hypocalciuric hypercalcemia maps to chromosome 3q in four unrelated families

Y H Chou et al. Nat Genet. 1992 Jul.

Abstract

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant syndrome of unknown aetiology characterized by lifelong elevation in serum calcium concentration and low urinary calcium excretion. These features suggest that the causal gene is important for maintenance of extracellular calcium homeostasis by the parathyroid gland and kidney. To identify the chromosomal location of FHH gene(s), we clinically evaluated 114 individuals in four unrelated affected families and performed linkage analyses. The disease gene mapped to the long arm of chromosome 3 in each family (combined maximum multipoint lod score = 20.67). We suggest that this is the predominant FHH locus and anticipate that identification of the FHH gene will improve our understanding of the molecular basis for physiologic and pathologic regulation of calcium.

Similar articles

• A new betaA1-crystallin splice junction mutation in autosomal dominant cataract.

  Bateman JB, Geyer DD, Flodman P, Johannes M, Sikela J, Walter N, Moreira AT, Clancy K, Spence MA. Bateman JB, et al. Invest Ophthalmol Vis Sci. 2000 Oct;41(11):3278-85. Invest Ophthalmol Vis Sci. 2000. PMID: 11006214

• A gene for familial juvenile nephronophthisis (recessive medullary cystic kidney disease) maps to chromosome 2p.

  Antignac C, Arduy CH, Beckmann JS, Benessy F, Gros F, Medhioub M, Hildebrandt F, Dufier JL, Kleinknecht C, Broyer M, et al. Antignac C, et al. Nat Genet. 1993 Apr;3(4):342-5. doi: 10.1038/ng0493-342. Nat Genet. 1993. PMID: 7981755

• Suggestive linkage of familial primary cutaneous amyloidosis to a locus on chromosome 1q23.

  Lin MW, Lee DD, Lin CH, Huang CY, Wong CK, Chang YT, Liu HN, Hsiao KJ, Tsai SF. Lin MW, et al. Br J Dermatol. 2005 Jan;152(1):29-36. doi: 10.1111/j.1365-2133.2004.06254.x. Br J Dermatol. 2005. PMID: 15656797

• [Familial hypercalciuric hypercalcemia].

  Kassem M, Eriksen EF, Mosekilde L. Kassem M, et al. Nord Med. 1991;106(4):107-8, 111. Nord Med. 1991. PMID: 2038554 Review. Danish.

• Mouse chromosome 1.

  Seldin MF, Roderick TH, Paigen B. Seldin MF, et al. Mamm Genome. 1991;1 Spec No:S1-17. Mamm Genome. 1991. PMID: 1799793 Review. No abstract available.

Cited by

• Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

  Marx SJ, Goltzman D. Marx SJ, et al. J Bone Miner Res. 2019 Jan;34(1):22-37. doi: 10.1002/jbmr.3650. Epub 2018 Dec 10. J Bone Miner Res. 2019. PMID: 30536424 Free PMC article. Review.

• Familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Effects of mutant gene dosage on phenotype.

  Pollak MR, Chou YH, Marx SJ, Steinmann B, Cole DE, Brandi ML, Papapoulos SE, Menko FH, Hendy GN, Brown EM, et al. Pollak MR, et al. J Clin Invest. 1994 Mar;93(3):1108-12. doi: 10.1172/JCI117062. J Clin Invest. 1994. PMID: 8132750 Free PMC article.

• Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity.

  Heath H 3rd, Jackson CE, Otterud B, Leppert MF. Heath H 3rd, et al. Am J Hum Genet. 1993 Jul;53(1):193-200. Am J Hum Genet. 1993. PMID: 8317484 Free PMC article.

• Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism.

  Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP, et al. Pearce SH, et al. J Clin Invest. 1995 Dec;96(6):2683-92. doi: 10.1172/JCI118335. J Clin Invest. 1995. PMID: 8675635 Free PMC article.

• Familial Hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome maps to a locus on chromosome 7q3.

  MacRae CA, Ghaisas N, Kass S, Donnelly S, Basson CT, Watkins HC, Anan R, Thierfelder LH, McGarry K, Rowland E, et al. MacRae CA, et al. J Clin Invest. 1995 Sep;96(3):1216-20. doi: 10.1172/JCI118154. J Clin Invest. 1995. PMID: 7657794 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Other Literature Sources

  • The Lens - Patent Citations Database