A second locus mapping to 2q35-36 for familial pseudohyperkalaemia

Massimo Carella, Adamo Pio d'Adamo, Sabine Grootenboer-Mignot, Marie C. Vantyghem, Laura Esposito, Angela D'Eustacchio, Romina Ficarella, Gordon W. Stewart, Paolo Gasparini, Jean Delaunay, Achille Iolascon

Research output: Contribution to journalArticle

Abstract

Familial pseudohyperkalaemia (FP) is a symptomless, dominantly inherited red cell trait, which shows a 'passive leak' of K+ cations into the plasma upon storage of blood at room temperature (or below). There are no haematological abnormalities. The loss of K+ is due to a change in the temperature dependence of the leak. The Scottish case initially described, FP Edinburgh, maps to 16q23-qter. Here we studied a large kindred of Flemish descent with FP, termed FP Lille, which was phenotypically identical to the Edinburgh FP. In FP Lille, however, the responsible locus mapped to 2q35-36, with a Lod score of 8.46 for marker D2S1338. We infer that FP Edinburgh and FP Lille, although they are phenocopies of one another, stem from two distinct loci, FP1 (16q23-qter) and FP2 (2q35-36), respectively. This duality hints at the possibility that the protein mediating the leak might be a heterodimer. No mutation was found in three plausibly candidate genes: the KCNE4 gene, the TUBA1 gene and a predicted gene located in genomic contig NT_005403.

Original languageEnglish
Pages (from-to)1073-1076
Number of pages4
JournalEuropean Journal of Human Genetics
Volume12
Issue number12
DOIs
Publication statusPublished - Dec 2004

Fingerprint

Genes
Lod Score
Temperature
Cations
Mutation
Pseudohyperkalemia, Familial, 2, due to Red Cell Leak
Proteins

Keywords

  • 2q35-36
  • Erythrocytes
  • Pseudohyperkalaemia

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Carella, M., d'Adamo, A. P., Grootenboer-Mignot, S., Vantyghem, M. C., Esposito, L., D'Eustacchio, A., ... Iolascon, A. (2004). A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. European Journal of Human Genetics, 12(12), 1073-1076. https://doi.org/10.1038/sj.ejhg.5201280

A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. / Carella, Massimo; d'Adamo, Adamo Pio; Grootenboer-Mignot, Sabine; Vantyghem, Marie C.; Esposito, Laura; D'Eustacchio, Angela; Ficarella, Romina; Stewart, Gordon W.; Gasparini, Paolo; Delaunay, Jean; Iolascon, Achille.

In: European Journal of Human Genetics, Vol. 12, No. 12, 12.2004, p. 1073-1076.

Research output: Contribution to journalArticle

Carella, M, d'Adamo, AP, Grootenboer-Mignot, S, Vantyghem, MC, Esposito, L, D'Eustacchio, A, Ficarella, R, Stewart, GW, Gasparini, P, Delaunay, J & Iolascon, A 2004, 'A second locus mapping to 2q35-36 for familial pseudohyperkalaemia', European Journal of Human Genetics, vol. 12, no. 12, pp. 1073-1076. https://doi.org/10.1038/sj.ejhg.5201280
Carella M, d'Adamo AP, Grootenboer-Mignot S, Vantyghem MC, Esposito L, D'Eustacchio A et al. A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. European Journal of Human Genetics. 2004 Dec;12(12):1073-1076. https://doi.org/10.1038/sj.ejhg.5201280
Carella, Massimo ; d'Adamo, Adamo Pio ; Grootenboer-Mignot, Sabine ; Vantyghem, Marie C. ; Esposito, Laura ; D'Eustacchio, Angela ; Ficarella, Romina ; Stewart, Gordon W. ; Gasparini, Paolo ; Delaunay, Jean ; Iolascon, Achille. / A second locus mapping to 2q35-36 for familial pseudohyperkalaemia. In: European Journal of Human Genetics. 2004 ; Vol. 12, No. 12. pp. 1073-1076.
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