低マグネシウム血症、てんかんおよび精神遅滞 (HOMGSMR)

Assadi F

Hypomagnesemia: an evidence-based approach to clinical cases.

Iran J Kidney Dis 4:13-9 (2010)

Lainez S, Schlingmann KP, van der Wijst J, Dworniczak B, van Zeeland F, Konrad M, Bindels RJ, Hoenderop JG

New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia.

Eur J Hum Genet 22:497-504 (2014)
DOI:10.1038/ejhg.2013.178

de Baaij JH, Dorresteijn EM, Hennekam EA, Kamsteeg EJ, Meijer R, Dahan K, Muller M, van den Dorpel MA, Bindels RJ, Hoenderop JG, Devuyst O, Knoers NV

Recurrent FXYD2 p.Gly41Arg mutation in patients with isolated dominant hypomagnesaemia.

Nephrol Dial Transplant 30:952-7 (2015)
DOI:10.1093/ndt/gfv014

Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.

Clin J Am Soc Nephrol 7:801-9 (2012)
DOI:10.2215/CJN.12841211

Groenestege WM, Thebault S, van der Wijst J, van den Berg D, Janssen R, Tejpar S, van den Heuvel LP, van Cutsem E, Hoenderop JG, Knoers NV, Bindels RJ

Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.

J Clin Invest 117:2260-7 (2007)
DOI:10.1172/JCI31680

Stuiver M, Lainez S, Will C, Terryn S, Gunzel D, Debaix H, Sommer K, Kopplin K, Thumfart J, Kampik NB, Querfeld U, Willnow TE, Nemec V, Wagner CA, Hoenderop JG, Devuyst O, Knoers NV, Bindels RJ, Meij IC, Muller D

CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia.

Am J Hum Genet 88:333-43 (2011)
DOI:10.1016/j.ajhg.2011.02.005

Arjona FJ, de Baaij JH, Schlingmann KP, Lameris AL, van Wijk E, Flik G, Regele S, Korenke GC, Neophytou B, Rust S, Reintjes N, Konrad M, Bindels RJ, Hoenderop JG

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

PLoS Genet 10:e1004267 (2014)
DOI:10.1371/journal.pgen.1004267

Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleineruschkamp F, Oh J, Godefroid N, Eltan M, Guran T, Burtey S, Parotte MC, Konig J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altmuller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF

mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.

J Am Soc Nephrol 32:2885-2899 (2021)
DOI:10.1681/ASN.2021030333

Schlingmann KP, Bandulik S, Mammen C, Tarailo-Graovac M, Holm R, Baumann M, Konig J, Lee JJY, Drogemoller B, Imminger K, Beck BB, Altmuller J, Thiele H, Waldegger S, Van't Hoff W, Kleta R, Warth R, van Karnebeek CDM, Vilsen B, Bockenhauer D, Konrad M

Germline De Novo Mutations in ATP1A1 Cause Renal Hypomagnesemia, Refractory Seizures, and Intellectual Disability.

Am J Hum Genet 103:808-816 (2018)
DOI:10.1016/j.ajhg.2018.10.004