CEDNIK syndrome results from loss-of-function mutations in SNAP29

British Journal of Dermatology

Volumn 164, Issue 3, 2011, Pages 610-616

  Fuchs Telem, D ^a,b   Stewart, H ^c   Rapaport, D ^b   Nousbeck, J ^a   Gat, A ^a   Gini, M ^a   Lugassy, Y ^d   Emmert, S ^e   Eckl, K ^f   Hennies, H C ^f   Sarig, O ^a   Goldsher, D ^d,g   Meilik, B ^a   Ishida Yamamoto, A ^h   Horowitz, M ^b   Sprecher, E ^a,b  

^a TEL AVIV SOURASKY MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c CHURCHILL HOSPITAL   (United Kingdom)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f UNIVERSITY OF COLOGNE   (Germany)

^g RAMBAM MEDICAL CENTER   (Israel)

^h ASAHIKAWA MEDICAL COLLEGE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

BOTULINUM TOXIN;

ALOPECIA; ARTICLE; BRAIN MALFORMATION; CASE REPORT; CEDNIK SYNDROME; CHILD; CLINICAL FEATURE; CONSANGUINITY; CORPUS CALLOSUM AGENESIS; DEVELOPMENTAL DISORDER; DIET THERAPY; DOWN REGULATION; ELECTROENCEPHALOGRAM; FACE DYSMORPHIA; FAILURE TO THRIVE; FEMALE; GENE; GENE INSERTION; GENE SEQUENCE; GENODERMATOSIS; HAIR DISEASE; HEARING AID; HEARING LOSS; HUMAN; HUMAN CELL; ICHTHYOSIS; KERATINOCYTE; LOSS OF FUNCTION MUTATION; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; PALMOPLANTAR KERATODERMA; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; QUADRIPLEGIA; RISK FACTOR; SNAP29 GENE; SPASTICITY; SPEECH DISORDER; SPEECH THERAPY;

BLOTTING, WESTERN; CELLS, CULTURED; FEMALE; HUMANS; INFANT; KERATODERMA, PALMOPLANTAR; MALE; MUTATION; NEUROCUTANEOUS SYNDROMES; QB-SNARE PROTEINS; QC-SNARE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 79952385384     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.10133.x     Document Type: Article

References (28)

1. Sprecher E, Ishida-Yamamoto A, Mizrahi-Koren M, et al. A mutation in SNAP29, coding for a SNARE protein involved in intracellular trafficking, causes a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma. Am J Hum Genet 2005; 77: 242-51. (Pubitemid 41022707)
2. Brose N,. For better or for worse: complexins regulate SNARE function and vesicle fusion. Traffic 2008; 9: 1403-13.
3. Wickner W, Schekman R,. Membrane fusion. Nat Struct Mol Biol 2008; 15: 658-64. (Pubitemid 351932008)
4. Candi E, Schmidt R, Melino G,. The cornified envelope: a model of cell death in the skin. Nat Rev Mol Cell Biol 2005; 6: 328-40. (Pubitemid 40516899)
5. Derby MC, Gleeson PA,. New insights into membrane trafficking and protein sorting. Int Rev Cytol 2007; 261: 47-116. (Pubitemid 46856617)
6. Cai H, Reinisch K, Ferro-Novick S,. Coats, tethers, Rabs, and SNAREs work together to mediate the intracellular destination of a transport vesicle. Dev Cell 2007; 12: 671-82. (Pubitemid 46667749)
7. Steegmaier M, Yang B, Yoo JS, et al. Three novel proteins of the syntaxin/SNAP-25 family. J Biol Chem 1998; 273: 34171-9. (Pubitemid 29008890)
8. Akiyama M, Shimizu H,. An update on molecular aspects of the non-syndromic ichthyoses. Exp Dermatol 2008; 17: 373-82. (Pubitemid 351513951)
9. Madison KC,. Barrier function of the skin: 'la raison d'etre' of the epidermis. J Invest Dermatol 2003; 121: 231-41. (Pubitemid 36969895)
10. Rapaport D, Lugassy Y, Sprecher E, Horowitz M,. Loss of SNAP29 impairs endocytic recycling and cell motility. PLoS ONE 2010; 5: e9759.
11. Descargues P, Deraison C, Prost C, et al. Corneodesmosomal cadherins are preferential targets of stratum corneum trypsin- and chymotrypsin-like hyperactivity in Netherton syndrome. J Invest Dermatol 2006; 126: 1622-32.
12. Schardt A, Brinkmann BG, Mitkovski M, et al. The SNARE protein SNAP-29 interacts with the GTPase Rab3A: implications for membrane trafficking in myelinating glia. J Neurosci Res 2009; 87: 3465-79.
13. Rotem-Yehudar R, Galperin E, Horowitz M,. Association of insulin-like growth factor 1 receptor with EHD1 and SNAP29. J Biol Chem 2001; 276: 33054-60.
14. Feng L, Xie X, Ding Q, et al. Spatial regulation of Raf kinase signaling by RKTG. Proc Natl Acad Sci USA 2007; 104: 14348-53. (Pubitemid 350003264)
15. Thomas AC, Tattersall D, Norgett EE, et al. Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in harlequin ichthyosis. Am J Pathol 2009; 174: 970-8.
16. Man YK, Trolove C, Tattersall D, et al. A deafness-associated mutant human connexin 26 improves the epithelial barrier in vitro. J Membr Biol 2007; 218: 29-37. (Pubitemid 350132115)
17. Igoucheva O, Kelly A, Uitto J, et al. Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro. J Invest Dermatol 2008; 128: 1476-86. (Pubitemid 351693189)
18. DiGiovanna JJ, Robinson-Bostom L,. Ichthyosis: etiology, diagnosis, and management. Am J Clin Dermatol 2003; 4: 81-95. (Pubitemid 36259517)
19. Oji V, Traupe H,. Ichthyoses: differential diagnosis and molecular genetics. Eur J Dermatol 2006; 16: 349-59. (Pubitemid 44328973)
20. Richard G,. Molecular genetics of the ichthyoses. Am J Med Genet 2004; 131C: 32-44. (Pubitemid 39441632)
21. Ishida-Yamamoto A, Simon M, Kishibe M, et al. Epidermal lamellar granules transport different cargoes as distinct aggregates. J Invest Dermatol 2004; 122: 1137-44. (Pubitemid 38651088)
22. Malsam J, Kreye S, Sollner TH,. Membrane fusion: SNAREs and regulation. Cell Mol Life Sci 2008; 65: 2814-32.
23. Pan PY, Cai Q, Lin L, et al. SNAP-29-mediated modulation of synaptic transmission in cultured hippocampal neurons. J Biol Chem 2005; 280: 25769-79. (Pubitemid 40962287)
24. Wong SH, Xu Y, Zhang T, et al. GS32, a novel Golgi SNARE of 32 kDa, interacts preferentially with syntaxin 6. Mol Biol Cell 1999; 10: 119-34. (Pubitemid 29156931)
25. Ishida-Yamamoto A, Deraison C, Bonnart C, et al. LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum. J Invest Dermatol 2005; 124: 360-6. (Pubitemid 40175883)
26. Akiyama M,. Harlequin ichthyosis and other autosomal recessive congenital ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci 2006; 42: 83-9.
27. Kelsell DP, Norgett EE, Unsworth H, et al. Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet 2005; 76: 794-803. (Pubitemid 40563101)
28. Oji V, Tadini G, Akiyama M, et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol 2010; 63: 607-41.