New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia

  title={New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia},
  author={Sergio La{\'i}nez and Karl Peter Schlingmann and Jenny van der Wijst and B. Dworniczak and Femke van Zeeland and Martin Konrad and Ren{\'e} J M Bindels and Joost G. J. Hoenderop},
  journal={European Journal of Human Genetics},
Despite recent progress in our understanding of renal magnesium (Mg2+) handling, the molecular mechanisms accounting for transepithelial Mg2+ transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg2+ channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg2+ levels (<0.4… CONTINUE READING

From This Paper

Figures, tables, and topics from this paper.


Publications citing this paper.
Showing 1-10 of 14 extracted citations

Diagnostic strategy for inherited hypomagnesemia

Clinical and Experimental Nephrology • 2017


Publications referenced by this paper.
Showing 1-10 of 34 references

Clinical and molecular characterization of Turkish patients with familial hypomagnesaemia : novel mutations in TRPM 6 and CLDN 16 genes

AM Habeb, H Al-Harbi, KP Schlingmann
Nephrol Dial Transplant • 2012

Resolving basal ganglia calcification in hereditary hypomagnesemia with secondary hypocalcemia due to a novel TRPM6 gene mutation.

Saudi journal of kidney diseases and transplantation : an official publication of the Saudi Center for Organ Transplantation, Saudi Arabia • 2012

Role of the transient receptor potential vanilloid 5 ( TRPV 5 ) protein N terminus in channel activity , tetramerization , and trafficking

T deGroot, EA vanderHagen, +3 authors JG Hoenderop
J Biol Chem • 2011

Long - term follow - up of a patient with primary hypomagnesaemia and secondary hypocalcaemia due to a novel TRPM 6 mutation

V Chubanov, S Waldegger, M MederosySchnitzler
Eur J Pediatr • 2009

Similar Papers

Loading similar papers…