Cantú syndrome is caused by mutations in ABCC9

American Journal of Human Genetics

Volumn 90, Issue 6, 2012, Pages 1094-1101

  Van Bon, Bregje W M ^a   Gilissen, Christian ^a   Grange, Dorothy K ^b   Hennekam, Raoul C M ^c   Kayserili, Hülya ^d   Engels, Hartmut ^e   Reutter, Heiko ^e   Ostergaard, John R ^f   Morava, Eva ^a   Tsiakas, Konstantinos ^g   Isidor, Bertrand ^h   Le Merrer, Martine ⁱ   Eser, Metin ^d   Wieskamp, Nienke ^a   De Vries, Petra ^a   Steehouwer, Marloes ^a   Veltman, Joris A ^a   Robertson, Stephen P ^j   Brunner, Han G ^a   De Vries, Bert B A ^a   Hoischen, Alexander ^a,k   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

^d ISTANBUL UNIVERSITY   (Turkey)

^e UNIVERSITY OF BONN   (Germany)

^f AARHUS UNIVERSITY HOSPITAL   (Denmark)

^g UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^h NANTES UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

^j UNIVERSITY OF OTAGO   (New Zealand)

^k HAUKELAND UNIVERSITY HOSPITAL   (Norway)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE DIPHOSPHATE; ADENOSINE TRIPHOSPHATE; CALCIUM ION; MINOXIDIL; POTASSIUM CHANNEL; SULFONYLUREA RECEPTOR; SULFONYLUREA RECEPTOR 1; SULFONYLUREA RECEPTOR 2; TRANSMEMBRANE CONDUCTANCE REGULATOR; UNCLASSIFIED DRUG;

ABCC9 GENE; ADOLESCENT; ADULT; ARTICLE; CANTU SYNDROME; CARDIOMEGALY; CARDIOMYOPATHY; CHILD; CHONDRODYSPLASIA; CHROMOSOME 11; CLINICAL ARTICLE; DISEASE ASSOCIATION; EXOME; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE SEQUENCE; HEART MUSCLE; HUMAN; HYPERTRICHOSIS; IDIOPATHIC DILATED CARDIOMYOPATHY TYPE 10; INFANT; LOSS OF FUNCTION MUTATION; MACROSOMIA; MALE; MISSENSE MUTATION; PHENOTYPE; POTASSIUM CHANNELOPATHY; PRESCHOOL CHILD; PRIORITY JOURNAL; RARE DISEASE; SCHOOL CHILD; SKELETAL MUSCLE; SMOOTH MUSCLE; ZEBRA FISH;

ADOLESCENT; ADULT; ATP-BINDING CASSETTE TRANSPORTERS; BASE SEQUENCE; CARDIOMEGALY; CHILD; COHORT STUDIES; FACIES; FEMALE; GENES, DOMINANT; GENETIC DISEASES, X-LINKED; HUMANS; HYPERTRICHOSIS; INFANT; MALE; MOLECULAR SEQUENCE DATA; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; POTASSIUM CHANNELS; POTASSIUM CHANNELS, INWARDLY RECTIFYING; RECEPTORS, DRUG; SEQUENCE ANALYSIS, DNA;

EID: 84862128171     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2012.04.014     Document Type: Article

References (33)

1. D.K. Grange, S.M. Lorch, P.L. Cole, and G.K. Singh Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations Am. J. Med. Genet. A. 140 2006 1673 1680
2. B. Lazalde, R. Sánchez-Urbina, I. Nuño-Arana, W.E. Bitar, and M. de Lourdes Ramírez-Dueñas Autosomal dominant inheritance in Cantú syndrome (congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly) Am. J. Med. Genet. 94 2000 421 427
3. I. Scurr, L. Wilson, M. Lees, S. Robertson, E. Kirk, A. Turner, J. Morton, A. Kidd, V. Shashi, and C. Stanley Cantú syndrome: report of nine new cases and expansion of the clinical phenotype Am. J. Med. Genet. A. 155A 2011 508 518
4. S.P. Robertson, E. Kirk, F. Bernier, J. Brereton, A. Turner, and A. Bankier Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: Cantú syndrome Am. J. Med. Genet. 85 1999 395 402
5. J.M. Cantú, D. García-Cruz, J. Sánchez-Corona, A. Hernández, and Z. Nazará A distinct osteochondrodysplasia with hypertrichosis- Individualization of a probable autosomal recessive entity Hum. Genet. 60 1982 36 41
6. E.M. Rosser, H. Kaariainen, J.A. Hurst, M. Baraitser, C.M. Hall, P. Clayton, and J.V. Leonard Three patients with the osteochondrodysplasia and hypertrichosis syndrome - Cantu syndrome Clin. Dysmorphol. 7 1998 79 85
7. M. Kurban, C.A. Kim, M. Kiuru, K. Fantauzzo, R. Cabral, O. Abbas, B. Levy, and A.M. Christiano Copy number variations on chromosome 4q26-27 are associated with Cantu syndrome Dermatology (Basel) 223 2011 316 320
8. T.Y. Tan, A. Bankier, H.R. Slater, E.L. Northrop, M. Zacharin, and R. Savarirayan A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome Am. J. Med. Genet. A. 139 2005 216 220
9. D. Garcia-Cruz, J. Sánchez-Corona, Z. Nazará, M.O. Garcia-Crúz, L.E. Figuera, V. Castañeda, and J.M. Cantú Congenital hypertrichosis, osteochondrodysplasia, and cardiomegaly: further delineation of a new genetic syndrome Am. J. Med. Genet. 69 1997 138 151
10. D. García-Cruz, A. Mampel, M.I. Echeverria, A.L. Vargas, G. Castañeda-Cisneros, N. Davalos-Rodriguez, B. Patiño-Garcia, M.O. Garcia-Cruz, V. Castañeda, and E.G. Cardona Cantu syndrome and lymphoedema Clin. Dysmorphol. 20 2011 32 37
11. J.J. O'Brien, and D.G. Ririe Anesthetic experience in a patient with Cantú syndrome Paediatr. Anaesth. 18 2008 1255 1257
12. H. Engels, K. Bosse, A. Ehrbrecht, S. Zahn, A. Hoischen, P. Propping, L. Bindl, and H. Reutter Further case of Cantú syndrome: exclusion of cryptic subtelomeric chromosome aberrations Am. J. Med. Genet. 111 2002 205 209
13. A. Hoischen, B.W. van Bon, C. Gilissen, P. Arts, B. van Lier, M. Steehouwer, P. de Vries, R. de Reuver, N. Wieskamp, and G. Mortier De novo mutations of SETBP1 cause Schinzel-Giedion syndrome Nat. Genet. 42 2010 483 485
14. A. Hoischen, B.W. van Bon, B. Rodríguez-Santiago, C. Gilissen, L.E. Vissers, P. de Vries, I. Janssen, B. van Lier, R. Hastings, and S.F. Smithson De novo nonsense mutations in ASXL1 cause Bohring-Opitz syndrome Nat. Genet. 43 2011 729 731
15. L.E. Vissers, J. de Ligt, C. Gilissen, I. Janssen, M. Steehouwer, P. de Vries, B. van Lier, P. Arts, N. Wieskamp, and M. del Rosario A de novo paradigm for mental retardation Nat. Genet. 42 2010 1109 1112
16. C.F. Higgins ABC transporters: physiology, structure and mechanism - an overview Res. Microbiol. 152 2001 205 210
17. C.G. Nichols KATP channels as molecular sensors of cellular metabolism Nature 440 2006 470 476
18. J. Bryan, A. Muñoz, X. Zhang, M. Düfer, G. Drews, P. Krippeit-Drews, and L. Aguilar-Bryan ABCC8 and ABCC9: ABC transporters that regulate K+ channels Pflugers Arch. 453 2007 703 718
19. T.P. Flagg, D. Enkvetchakul, J.C. Koster, and C.G. Nichols Muscle KATP channels: recent insights to energy sensing and myoprotection Physiol. Rev. 90 2010 799 829
20. J.M. Catchen, J.S. Conery, and J.H. Postlethwait Automated identification of conserved synteny after whole-genome duplication Genome Res. 19 2009 1497 1505
21. H. de Wet, C. Fotinou, N. Amad, M. Dreger, and F.M. Ashcroft The ATPase activities of sulfonylurea receptor 2A and sulfonylurea receptor 2B are influenced by the C-terminal 42 amino acids FEBS J. 277 2010 2654 2662
22. J.P. Schmitt, M. Kamisago, M. Asahi, G.H. Li, F. Ahmad, U. Mende, E.G. Kranias, D.H. MacLennan, J.G. Seidman, and C.E. Seidman Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban Science 299 2003 1410 1413
23. K.R. Chien, J. Ross Jr., and M. Hoshijima Calcium and heart failure: the cycle game Nat. Med. 9 2003 508 509
24. E.J. Cartwright, T. Mohamed, D. Oceandy, and L. Neyses Calcium signaling dysfunction in heart disease Biofactors 37 2011 175 181
25. M. Bienengraeber, T.M. Olson, V.A. Selivanov, E.C. Kathmann, F. O'Cochlain, F. Gao, A.B. Karger, J.D. Ballew, D.M. Hodgson, and L.V. Zingman ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating Nat. Genet. 36 2004 382 387
26. U. Russ, U. Lange, C. Löffler-Walz, A. Hambrock, and U. Quast Binding and effect of K ATP channel openers in the absence of Mg2+ Br. J. Pharmacol. 139 2003 368 380
27. A.G. Messenger, and J. Rundegren Minoxidil: mechanisms of action on hair growth Br. J. Dermatol. 150 2004 186 194
28. A. Hayashi, T. Suzuki, H. Wachi, S. Tajima, T. Nishikawa, S. Murad, and S.R. Pinnell Minoxidil stimulates elastin expression in aortic smooth muscle cells Arch. Biochem. Biophys. 315 1994 137 141
29. K.D. Meisheri, L.A. Cipkus, and C.J. Taylor Mechanism of action of minoxidil sulfate-induced vasodilation: a role for increased K+ permeability J. Pharmacol. Exp. Ther. 245 1988 751 760
30. R.J. Winquist, L.A. Heaney, A.A. Wallace, E.P. Baskin, R.B. Stein, M.L. Garcia, and G.J. Kaczorowski Glyburide blocks the relaxation response to BRL 34915 (cromakalim), minoxidil sulfate and diazoxide in vascular smooth muscle J. Pharmacol. Exp. Ther. 248 1989 149 156
31. A.P. Babenko, M. Polak, H. Cavé, K. Busiah, P. Czernichow, R. Scharfmann, J. Bryan, L. Aguilar-Bryan, M. Vaxillaire, and P. Froguel Activating mutations in the ABCC8 gene in neonatal diabetes mellitus N. Engl. J. Med. 355 2006 456 466
32. H. de Wet, M.G. Rees, K. Shimomura, J. Aittoniemi, A.M. Patch, S.E. Flanagan, S. Ellard, A.T. Hattersley, M.S. Sansom, and F.M. Ashcroft Increased ATPase activity produced by mutations at arginine-1380 in nucleotide-binding domain 2 of ABCC8 causes neonatal diabetes Proc. Natl. Acad. Sci. USA 104 2007 18988 18992
33. E.L. Edghill, S.E. Flanagan, and S. Ellard Permanent neonatal diabetes due to activating mutations in ABCC8 and KCNJ11 Rev. Endocr. Metab. Disord. 11 2010 193 198