The role of the abnormalities in the distal pathway of cholesterol biosynthesis in the Conradi-Hünermann-Happle syndrome

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1841, Issue 3, 2014, Pages 336-344

  Cañueto, Javier ^a,b   Girós, Marisa ^c   González Sarmiento, Rogelio ^b,d,e  

^a HOSPITAL UNIVERSITARIO DE SALAMANCA   (Spain)

^b INSTITUTO DE INVESTIGACIÓN BIOMÉDICA DE SALAMANCA IBSAL   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d UNIVERSITY OF SALAMANCA   (Spain)

^e UNIVERSITY OF SALAMANCA   (Spain)

Author keywords

CDPX2; Cholesterol; Conradi H nermann Happle syndrome; EBP; Sterol isomerase; X linked dominant chondrodysplasia punctata

Indexed keywords

AMINO ACID; CHOLESTEROL; EMOPAMIL; SONIC HEDGEHOG PROTEIN;

BIOCHEMISTRY; CALCIFYING CHONDRODYSTROPHY; CATARACT; CHOLESTEROL SYNTHESIS; CHONDRODYSPLASIA PUNCTATA; CONGENITAL ICHTHYOSIFORM ERYTHRODERMA; GENETIC ANALYSIS; HUMAN; NONHUMAN; PHENOTYPE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; X CHROMOSOME;

ERINACEIDAE;

CDPX2; CHOLESTEROL; CONRADI-HÜNERMANN-HAPPLE SYNDROME; EBP; STEROL ISOMERASE; X-LINKED DOMINANT CHONDRODYSPLASIA PUNCTATA;

CHOLESTADIENOLS; CHOLESTEROL; CHONDRODYSPLASIA PUNCTATA; CHROMOSOMES, HUMAN, X; FEMALE; GENES, DOMINANT; HEDGEHOG PROTEINS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; SIGNAL TRANSDUCTION; STEROID ISOMERASES;

EID: 84896726944     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2013.09.002     Document Type: Review

References (72)

1. K.R. Feingold The outer frontier: the importance of lipid metabolism in the skin J. Lipid Res. 50 2009 S417 S422 (Suppl.)
2. P.M. Elias, M.L. Williams, W.M. Holleran, Y.J. Jiang, and M. Schmuth Pathogenesis of permeability barrier abnormalities in the ichthyoses: inherited disorders of lipid metabolism J. Lipid Res. 49 2008 697 714
3. V. Oji, G. Tadini, M. Akiyama, C. Blanchet Bardon, C. Bodemer, E. Bourrat, P. Coudiere, J.J. DiGiovanna, P. Elias, J. Fischer, P. Fleckman, M. Gina, J. Harper, T. Hashimoto, I. Hausser, H.C. Hennies, D. Hohl, A. Hovnanian, A. Ishida-Yamamoto, W.K. Jacyk, S. Leachman, I. Leigh, J. Mazereeuw-Hautier, L. Milstone, F. Morice-Picard, A.S. Paller, G. Richard, M. Schmuth, H. Shimizu, E. Sprecher, M. Van Steensel, A. Taieb, J.R. Toro, P. Vabres, A. Vahlquist, M. Williams, and H. Traupe Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze J. Am. Acad. Dermatol. 63 2009 607 641
4. J.W. Spranger, J.M. Opitz, and U. Bidder Heterogeneity of chondrodysplasia punctata Humangenetik 11 1971 190 212
5. R. Happle, H.H. Matthiass, and E. Macher Sex-linked chondrodysplasia punctata? Clin. Genet. 11 1977 73 76
6. R. Happle X-linked dominant chondrodysplasia punctata. Review of literature and report of a case Hum. Genet. 53 1979 65 73 (Pubitemid 10173687)
7. L.J. Sheffield Comment on Traupe's tribute to Rudolf Happle Am. J. Med. Genet. 101 2001 283 (Pubitemid 32565708)
8. S. Shirahama, A. Miyahara, H. Kitoh, A. Honda, A. Kawase, K. Yamada, A. Mabuchi, H. Kura, Y. Yokoyama, M. Tsutsumi, T. Ikeda, N. Tanaka, G. Nishimura, H. Ohashi, and S. Ikegawa Skewed X-chromosome inactivation causes intra-familial phenotypic variation of an EBP mutation in a family with X-linked dominant chondrodysplasia punctata Hum. Genet. 112 2003 78 83 (Pubitemid 36869119)
9. Y. Hellenbroich, K.H. Grzeschik, M. Krapp, T. Jarutat, C. Lehrmann-Petersen, K. Buiting, and G. Gillessen-Kaesbach Reduced penetrance in a family with X-linked dominant chondrodysplasia punctata Eur. J. Med. Genet. 50 2007 392 398 (Pubitemid 47440150)
10. G.E. Herman, R.I. Kelley, V. Pureza, D. Smith, K. Kopacz, J. Pitt, R. Sutphen, L.J. Sheffield, and A.B. Metzenberg Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome) Genet. Med. 4 2002 434 438 (Pubitemid 44698536)
11. S. Ikegawa, H. Ohashi, T. Ogata, A. Honda, M. Tsukahara, T. Kubo, M. Kimizuka, M. Shimode, T. Hasegawa, G. Nishimura, and Y. Nakamura Novel and recurrent EBP mutations in X-linked dominant chondrodysplasia punctata Am. J. Med. Genet. 94 2000 300 305
12. C. Has, U. Seedorf, F. Kannenberg, L. Bruckner-Tuderman, E. Folkers, R. Folster-Holst, I. Baric, and H. Traupe Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hunermann-Happle syndrome J. Invest. Dermatol. 118 2002 851 858 (Pubitemid 34526549)
13. J. Canueto, M. Giros, S. Ciria, G. Pi-Castan, M. Artigas, J. Garcia-Dorado, V. Garcia-Patos, A. Viros, T. Vendrell, A. Torrelo, A. Hernandez-Martin, E. Martin-Hernandez, M.T. Garcia-Silva, M. Fernandez-Burriel, J. Rosell, M. Tejedor, F. Martinez, J. Valero, J.L. Garcia, E.M. Sanchez-Tapia, P. Unamuno, and R. Gonzalez-Sarmiento Clinical, molecular and biochemical characterization of nine Spanish families with Conradi-Hunermann-Happle syndrome: new insights into X-linked dominant chondrodysplasia punctata with a comprehensive review of the literature Br. J. Dermatol. 166 2012 830 838
14. M. Yajima, E. Muroga, T. Nomura, A. Arakawa, K. Takahashi, K. Matsubara, K. Kabashima, and Y. Miyachi Case of Conradi-Hunermann-Happle syndrome with alopecia: histological examination of affected follicles J. Dermatol. 39 2012 1059 1060
15. M.P. Hoang, K.R. Carder, A.G. Pandya, and M.J. Bennett Ichthyosis and keratotic follicular plugs containing dystrophic calcification in newborns: distinctive histopathologic features of X-linked dominant chondrodysplasia punctata (Conradi-Hunermann-Happle syndrome) Am. J. Dermatopathol. 26 2004 53 58 (Pubitemid 38116542)
16. R. Happle Skin markers of X-linked dominant chondrodysplasia punctata Arch. Dermatol. 115 1979 931 932
17. U.E. Pazzaglia, G. Zarattini, C. Donzelli, A. Benetti, M.P. Bondioni, and C. Groli The nature of cartilage stippling in chondrodysplasia punctata: histopathological study of Conradi-Hunermann syndrome Fetal Pediatr. Pathol. 27 2008 71 81 (Pubitemid 351890379)
18. R. Happle Cataracts as a marker of genetic heterogeneity in chondrodysplasia punctata Clin. Genet. 19 1981 64 66 (Pubitemid 11136677)
19. D. Bruch, M. Megahed, F. Majewski, and T. Ruzicka Ichthyotic and psoriasiform skin lesions along Blaschko's lines in a woman with X-linked dominant chondrodysplasia punctata J. Am. Acad. Dermatol. 33 1995 356 360
20. H.R. Waterham Inherited disorders of cholesterol biosynthesis Clin. Genet. 61 2002 393 403 (Pubitemid 36372675)
21. H.R. Waterham Defects of cholesterol biosynthesis FEBS Lett. 580 2006 5442 5449 (Pubitemid 44479759)
22. G.E. Herman Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes Hum. Mol. Genet. 12 2003 R75 R88 (Spec No 1)
23. K.R. Feingold The regulation and role of epidermal lipid synthesis Adv. Lipid Res. 24 1991 57 82
24. K.R. Feingold Thematic review series: skin lipids. The role of epidermal lipids in cutaneous permeability barrier homeostasis J. Lipid Res. 48 2007 2531 2546 (Pubitemid 350272838)
25. E. Proksch, K.R. Feingold, and P.M. Elias Epidermal HMG CoA reductase activity in essential fatty acid deficiency: barrier requirements rather than eicosanoid generation regulate cholesterol synthesis J. Invest. Dermatol. 99 1992 216 220
26. E. Proksch, P.M. Elias, and K.R. Feingold Localization and regulation of epidermal 3-hydroxy-3-methylglutaryl-coenzyme A reductase activity by barrier requirements Biochim. Biophys. Acta 1083 1991 71 79
27. K.R. Feingold, M.Q. Man, G.K. Menon, S.S. Cho, B.E. Brown, and P.M. Elias Cholesterol synthesis is required for cutaneous barrier function in mice J. Clin. Invest. 86 1990 1738 1745 (Pubitemid 20372628)
28. R. Mirza, S. Hayasaka, Y. Takagishi, F. Kambe, S. Ohmori, K. Maki, M. Yamamoto, K. Murakami, T. Kaji, D. Zadworny, Y. Murata, and H. Seo DHCR24 gene knockout mice demonstrate lethal dermopathy with differentiation and maturation defects in the epidermis J. Invest. Dermatol. 126 2006 638 647 (Pubitemid 43255654)
29. A.S. Paller, M.A. van Steensel, M. Rodriguez-Martin, J. Sorrell, C. Health, D. Crumrine, M. van Geel, A.N. Cabrera, and P.M. Elias Pathogenesis-based therapy reverses cutaneous abnormalities in an inherited disorder of distal cholesterol metabolism J. Invest. Dermatol. 131 2011 2242 2248
30. P. Singh, R. Saxena, G. Srinivas, G. Pande, and A. Chattopadhyay Cholesterol biosynthesis and homeostasis in regulation of the cell cycle PLoS One 8 2013 e58833
31. R.I. Kelley, and G.E. Herman Inborn errors of sterol biosynthesis Annu. Rev. Genomics Hum. Genet. 2 2001 299 341 (Pubitemid 35265010)
32. J.A. Porter, K.E. Young, and P.A. Beachy Cholesterol modification of hedgehog signaling proteins in animal development Science 274 1996 255 259 (Pubitemid 26353204)
33. J. Herz, T.E. Willnow, and R.V. Farese Jr. Cholesterol, hedgehog and embryogenesis Nat. Genet. 15 1997 123 124
34. R.V. Farese Jr., and J. Herz Cholesterol metabolism and embryogenesis Trends Genet. 14 1998 115 120 (Pubitemid 28153330)
35. N.V. Whittock, L. Izatt, S.L. Simpson-Dent, K. Becker, and S.H. Wakelin Molecular prenatal diagnosis in a case of an X-linked dominant chondrodysplasia punctata Prenat. Diagn. 23 2003 701 704 (Pubitemid 37158458)
36. J.M. Derry, E. Gormally, G.D. Means, W. Zhao, A. Meindl, R.I. Kelley, Y. Boyd, and G.E. Herman Mutations in a delta 8-delta 7 sterol isomerase in the tattered mouse and X-linked dominant chondrodysplasia punctata. jderry@immunex.com Nat. Genet. 22 1999 286 290 (Pubitemid 29297257)
37. N. Braverman, P. Lin, F.F. Moebius, C. Obie, A. Moser, H. Glossmann, W.R. Wilcox, D.L. Rimoin, M. Smith, L. Kratz, R.I. Kelley, and D. Valle Mutations in the gene encoding 3 beta-hydroxysteroid-delta 8, delta 7-isomerase cause X-linked dominant Conradi-Hunermann syndrome Nat. Genet. 22 1999 291 294 (Pubitemid 29297258)
38. D. Schindelhauer, H. Hellebrand, L. Grimm, I. Bader, T. Meitinger, M. Wehnert, M. Ross, and A. Meindl Long-range map of a 3.5-Mb region in Xp11.23-22 with a sequence-ready map from a 1.1-Mb gene-rich interval Genome Res. 6 1996 1056 1069 (Pubitemid 26413617)
39. 2 + antagonist binding protein. Molecular cloning, tissue distribution, and heterologous expression J. Biol. Chem. 270 1995 7551 7557
40. 2 + antagonist binding protein from guinea pig liver endoplasmic reticulum J. Biol. Chem. 269 1994 29314 29320
41. C. Labit-Le Bouteiller, M.F. Jamme, M. David, S. Silve, C. Lanau, C. Dhers, C. Picard, A. Rahier, M. Taton, G. Loison, D. Caput, P. Ferrara, and J. Lupker Antiproliferative effects of SR31747A in animal cell lines are mediated by inhibition of cholesterol biosynthesis at the sterol isomerase step Eur. J. Biochem. 256 1998 342 349 (Pubitemid 28404797)
42. S. Silve, P.H. Dupuy, C. Labit-Lebouteiller, M. Kaghad, P. Chalon, A. Rahier, M. Taton, J. Lupker, D. Shire, and G. Loison Emopamil-binding protein, a mammalian protein that binds a series of structurally diverse neuroprotective agents, exhibits delta8-delta7 sterol isomerase activity in yeast J. Biol. Chem. 271 1996 22434 22440 (Pubitemid 26304678)
43. N.V. Whittock, L. Izatt, A. Mann, T. Homfray, C. Bennett, S. Mansour, J. Hurst, A. Fryer, A.K. Saggar, J.G. Barwell, S. Ellard, and P.T. Clayton Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2) J. Invest. Dermatol. 121 2003 939 942 (Pubitemid 37239143)
44. C. Has, L. Bruckner-Tuderman, D. Muller, M. Floeth, E. Folkers, D. Donnai, and H. Traupe The Conradi-Hunermann-Happle syndrome (CDPX2) and emopamil binding protein: novel mutations, and somatic and gonadal mosaicism Hum. Mol. Genet. 9 2000 1951 1955 (Pubitemid 30642659)
45. D. Rakheja, C.P. Read, D. Hull, R.L. Boriack, and C.F. Timmons A severely affected female infant with X-linked dominant chondrodysplasia punctata: a case report and a brief review of the literature Pediatr. Dev. Pathol. 10 2007 142 148 (Pubitemid 46580408)
46. F.F. Moebius, B.U. Fitzky, and H. Glossmann Genetic defects in postsqualene cholesterol biosynthesis Trends Endocrinol. Metab. 11 2000 106 114 (Pubitemid 30164203)
47. C.J. Brown, B.D. Hendrich, J.L. Rupert, R.G. Lafreniere, Y. Xing, J. Lawrence, and H.F. Willard The human XIST gene: analysis of a 17 kb inactive X-specific RNA that contains conserved repeats and is highly localized within the nucleus Cell 71 1992 527 542
48. B.K. Sun, and H. Tsao X-chromosome inactivation and skin disease J. Invest. Dermatol. 128 2008 2753 2759
49. R. Happle X-chromosome inactivation: role in skin disease expression Acta Paediatr. Suppl. 95 2006 16 23 (Pubitemid 43739090)
50. M. Hello, A. David, and S. Barbarot Conradi-Hunermann-Happle syndrome with unilateral distribution Ann. Dermatol. Venereol. 137 2010 44 47
51. B.R. Migeon The role of X inactivation and cellular mosaicism in women's health and sex-specific diseases JAMA 295 2006 1428 1433
52. D.J. Aughton, R.I. Kelley, A. Metzenberg, V. Pureza, and R.M. Pauli X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male Am. J. Med. Genet. A 116A 2003 255 260 (Pubitemid 36056743)
53. R. Sutphen, M.J. Amar, B.G. Kousseff, and K.E. Toomey XXY male with X-linked dominant chondrodysplasia punctata (Happle syndrome) Am. J. Med. Genet. 57 1995 489 492
54. A.W. Arnold, L. Bruckner-Tuderman, C. Has, and R. Happle Conradi-Hunermann-Happle syndrome in males vs. MEND syndrome (male EBP disorder with neurological defects) Br. J. Dermatol 166 2012 1309 1313
55. M. Tronnier, U.G. Froster-Iskenius, W. Schmeller, R. Happle, and H.H. Wolff X-chromosome dominant chondrodysplasia punctata (Happle) in a boy Hautarzt 43 1992 221 225
56. E. Omobono, and W. Goetsch Chondrodysplasia punctata (the Conradi-Hunermann syndrome). A clinical case report and review of the literature Minerva Pediatr. 45 1993 117 121
57. F. Crovato, and A. Rebora Acute skin manifestations of Conradi-Huenermann syndrome in a male adult Arch. Dermatol. 121 1985 1064 1065 (Pubitemid 15014953)
58. M. Hochman, and W.E. Fee Jr. Conradi-Hunerman syndrome. Case report Ann. Otol. Rhinol. Laryngol. 96 1987 565 568
59. L. De Raeve, M. Song, G. De Dobbeleer, M. Spehl, and N. Van Regemorter Lethal course of X-linked dominant chondrodysplasia punctata in a male newborn Dermatologica 178 1989 167 170 (Pubitemid 19104313)
60. L.V. Furtado, P. Bayrak-Toydemir, B. Hulinsky, K. Damjanovich, J.C. Carey, and A.F. Rope A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation Am. J. Med. Genet. A 152A 2010 2838 2844
61. J.M. Milunsky, T.A. Maher, and A.B. Metzenberg Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP Am. J. Med. Genet. A 116A 2003 249 254 (Pubitemid 36056742)
62. R. Happle A novel X-linked phenotype caused by hypomorphic EBP mutations Am. J. Med. Genet. A 155A 2011 1770 1771 author reply 1772
63. M.A. Dempsey, C. Tan, and G.E. Herman Chondrodysplasia Punctata 2 1993 (X-Linked)
64. R.I. Kelley, W.G. Wilcox, M. Smith, L.E. Kratz, A. Moser, and D.S. Rimoin Abnormal sterol metabolism in patients with Conradi-Hunermann-Happle syndrome and sporadic lethal chondrodysplasia punctata Am. J. Med. Genet. 83 1999 213 219
65. P.M. Steijlen, M. van Geel, M. Vreeburg, D. Marcus-Soekarman, L.J. Spaapen, F.C. Castelijns, M. Willemsen, and M.A. van Steensel Novel EBP gene mutations in Conradi-Hunermann-Happle syndrome Br. J. Dermatol. 157 2007 1225 1229 (Pubitemid 350115710)
66. S. Umranikar, P. Glanc, S. Unger, S. Keating, K. Fong, C.D. Trevors, D. Myles-Reid, and D. Chitayat X-linked dominant chondrodysplasia punctata: prenatal diagnosis and autopsy findings Prenat. Diagn. 26 2006 1235 1240 (Pubitemid 46032338)
67. A. Umekoji, K. Fukai, T. Kasama, T. Yokoi, M. Saito, A. Tsuruhara, and M. Ishii High 8-dehydrocholesterol level in a typical case of Conradi-Hunermann- Happle syndrome with a novel H76Y missense mutation J. Dermatol. Sci. 51 2008 62 65
68. L. Feldmeyer, B. Mevorah, K.H. Grzeschik, M. Huber, and D. Hohl Clinical variation in X-linked dominant chondrodysplasia punctata (X-linked dominant ichthyosis) Br. J. Dermatol. 154 2006 766 769 (Pubitemid 43374109)
69. A. Kolb-Maurer, K.H. Grzeschik, D. Haas, E.B. Brocker, and H. Hamm Conradi-Hunermann-Happle syndrome (X-linked dominant chondrodysplasia punctata) confirmed by plasma sterol and mutation analysis Acta Derm. Venereol. 88 2008 47 51 (Pubitemid 351212136)
70. S. Ausavarat, P. Tanpaiboon, S. Tongkobpetch, K. Suphapeetiporn, and V. Shotelersuk Two novel EBP mutations in Conradi-Hunermann-Happle syndrome Eur. J. Dermatol. 18 2008 391 393 (Pubitemid 352031846)
71. K. Becker, M. Csikos, A. Horvath, and S. Karpati Identification of a novel mutation in 3beta-hydroxysteroid-Delta8-Delta7-isomerase in a case of Conradi-Hunermann-Happle syndrome Exp. Dermatol. 10 2001 286 289 (Pubitemid 32754998)
72. V. Shotelersuk, and S. Tongkobpetch Two novel frameshift mutations of the EBP gene in two unrelated Thai girls with Conradi-Hunermann-Happle syndrome Clin. Exp. Dermatol. 30 2005 419 421 (Pubitemid 40835345)