Novel TRPM6 mutations in familial hypomagnesemia with secondary hypocalcemia

American Journal of Nephrology

Volumn 37, Issue 6, 2013, Pages 541-548

  Zhao, Zhen ^a   Pei, Yu ^b   Huang, Xianglan ^a   Liu, Yaping ^c   Yang, Wei ^c   Sun, Jing ^a   Si, Nuo ^c   Xing, Xiaoping ^a   Li, Mei ^a   Wang, Ou ^a   Jiang, Yan ^a   Zhang, Xue ^c   Xia, Weibo ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^b CHINESE PLA GENERAL HOSPITAL   (China)

^c PEKING UNION MEDICAL COLLEGE   (China)

Author keywords

Hypomagnesemia; Mutation; Secondary hypocalcemia; TRPM6 gene

Indexed keywords

CATION CHANNEL; GENOMIC DNA; TRANSIENT RECEPTOR POTENTIAL CHANNEL 6; CALCIUM; MAGNESIUM; MAGNESIUM SULFATE; TRANSIENT RECEPTOR POTENTIAL CHANNEL M6;

ADULT; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; EXON; FAMILIAL DISEASE; FAMILY; FEMALE; FRAMESHIFT MUTATION; GENE AMPLIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HYPOCALCEMIA; HYPOMAGNESEMIA; INTRON; KIDNEY DISTAL TUBULE; KIDNEY TUBULE ABSORPTION; LOSS OF FUNCTION MUTATION; MALE; NONSENSE MUTATION; PATHOPHYSIOLOGY; PRIORITY JOURNAL; CALCIUM BLOOD LEVEL; CASE REPORT; CHILD; CHINESE; CLINICAL FEATURE; CONTROLLED STUDY; CONVULSION; GENE SEQUENCE; GENOTYPE; HUMAN TISSUE; MAGNESIUM BLOOD LEVEL; PRESCHOOL CHILD;

ASIAN CONTINENTAL ANCESTRY GROUP; CODON, NONSENSE; FEMALE; FRAMESHIFT MUTATION; HETEROZYGOTE; HUMANS; HYPOCALCEMIA; RENAL TUBULAR TRANSPORT, INBORN ERRORS; TRPM CATION CHANNELS; YOUNG ADULT;

EID: 84877845210     PISSN: 02508095     EISSN: 14219670     Source Type: Journal    
DOI: 10.1159/000350886     Document Type: Article

References (26)

1. Shalev H, Phillip M, Galil A, Carmi R, Landau D: Clinical presentation and outcome in pri-mary familial hypomagnesaemia. Arch Dis Child 1998; 78:127-130. (Pubitemid 28136194)
2. Paunier L, Radde IC, Kooh SW, Conen PE, Fraser D: Primary hypomagnesemia with sec-ondary hypocalcemia in an infant. Pediatrics 1968; 41:385-402.
3. Alexander RT, Hoenderop JG, Bindels RJ: Molecular determinants of magnesium homeostasis: insights from human disease. J Am Soc Nephrol 2008; 19:1451-1458.
4. Walder RY, Landau D, Meyer P, Shalev H, Tsolia M, Borochowitz Z, Boettger MB, Beck GE, Englehardt RK, Carmi R, Sheffield VC: Mutation of TRPM6 causes familial hypo-magnesemia with secondary hypocalcemia. Nat Genet 2002; 31:171-174.
5. 2+ absorp-tion. J Biol Chem 2004; 279:19-25. (Pubitemid 38044794)
6. Anast CS, Mohs JM, Kaplan SL, Burns TW: Evidence for parathyroid failure in magne-sium deficiency. Science 1972; 177:606-608.
7. 2+ trans-port: insights from the TRP channel family. J Physiol 2011; 589:1535-1542.
8. Walder RY, Shalev H, Brennan TM, Carmi R, Elbedour K, Scott DA, Hanauer A, Mark AL, Patil S, Stone EM, Sheffield VC: Familial hypo-magnesemia maps to chromosome 9q, not to the X chromosome: genetic linkage mapping and analysis of a balanced translocation break-point. Hum Mol Genet 1997; 6:1491-1497. (Pubitemid 27397025)
9. Schlingmann KP, Weber S, Peters M, Nie-mann Nejsum L, Vitzthum H, Klingel K, Kratz M, Haddad E, Ristoff E, Dinour D, Syrrou M, Nielsen S, Sassen M, Waldegger S, Seyberth HW, Konrad M: Hypomagnesemia with sec-ondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family. Nat Genet 2002; 31:166-170.
10. Schlingmann KP, Gudermann T: A critical role of TRPM channel-kinase for human magnesium transport. J Physiol 2005; 566: 301-308. (Pubitemid 41030541)
11. Schmitz C, Dorovkov MV, Zhao X, Daven-port BJ, Ryazanov AG, Perraud AL: The chan-nel kinases TRPM6 and TRPM7 are function-ally nonredundant. J Biol Chem 2005; 280: 37763-37771. (Pubitemid 41642386)
12. Schlingmann KP, Sassen MC, Weber S, Pech-mann U, Kusch K, Pelken L, Lotan D, Syrrou M, Prebble JJ, Cole DE, Metzger DL, Rahman S, Tajima T, Shu SG, Waldegger S, Seyberth HW, Konrad M: Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia. J Am Soc Nep-hrol 2005; 16:3061-3069. (Pubitemid 44743504)
13. Chubanov V, Waldegger S, Mederos y Schnit-zler M, Vitzthum H, Sassen MC, Seyberth HW, Konrad M, Gudermann T: Disruption of TRPM6/TRPM7 complex formation by a mu-tation in the TRPM6 gene causes hypomagne-semia with secondary hypocalcemia. Proc Natl Acad Sci USA 2004; 101:2894-2899. (Pubitemid 38327707)
14. Hoenderop JG, Bindels RJ: Calciotropic and magnesiotropic TRP channels. Physiology (Bethesda) 2008; 23:32-40.
15. Chang Q, Gyftogianni E, van de Graaf SF, Hoefs S, Weidema FA, Bindels RJ, Hoenderop JG: Molecular determinants in TRPV5 chan-nel assembly. J Biol Chem 2004; 279:54304-54311. (Pubitemid 40053168)
16. Li M, Jiang J, Yue L: Functional characteriza-tion of homo-and heteromeric channel ki-nases TRPM6 and TRPM7. J Gen Physiol 2006; 127:525-537.
17. Vennekens R, Voets T, Bindels RJ, Droog-mans G, Nilius B: Current understanding of mammalian TRP homologues. Cell Calcium 2002; 31:253-264. (Pubitemid 34846848)
18. 2+ channel TRPM6: insight into the mo-lecular regulation. Magnes Res 2009; 22:127-132
19. erratum Magnes Res 2009; 22:289.
20. Thebault S, Alexander RT, Tiel Groenestege WM, Hoenderop JG, Bindels RJ: EGF increas-es TRPM6 activity and surface expression. J Am Soc Nephrol 2009; 20:78-85.
21. 2+ channels (TRPV5 and TRPV6) requires association of the S100A10-annexin 2 complex. EMBO J 2003; 22:1478-1487. (Pubitemid 36417397)
22. Challa A, Papaefstathiou I, Lapatsanis D, Tso-las O: Primary idiopathic hypomagnesemia in two female siblings. Acta Paediatr 1995; 84: 1075-1078.
23. Prebble JJ: Primary infantile hypomagnesae-mia: report of two cases. J Paediatr Child Health 1995; 31:54-56.
24. Cole DE, Kooh SW, Vieth R: Primary infantile hypomagnesaemia: outcome after 21 years and treatment with continuous nocturnal na-sogastric magnesium infusion. Eur J Pediatr 2000; 159:38-43. (Pubitemid 30120124)
25. Shu SG, Mak SC, Chen YC, Chi CS: Familial primary hypomagnesemia complicated with brain atrophy and cardiomyopathy. Zhong-hua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1997; 38:293-296.
26. Apa H, Kayserili E, Agin H, Hizarcioglu M, Gulez P, Berdeli A: A case of hypomagnese-mia with secondary hypocalcemia caused by Trpm6 gene mutation. Indian J Pediatr 2008; 75:632-634.