Severe mucous membrane involvement in epidermolysis bullosa simplex with muscular dystrophy due to a novel plectin gene mutation

European Journal of Pediatrics

Volumn 163, Issue 4-5, 2004, Pages 218-222

  Schara, Ulrike ^a,g   Tücke, Jens ^a   Mortier, Wilhelm ^a   Nüßlein, Thomas ^h   Rouan, Fatima ^b   Pfendner, Ellen ^b   Zillikens, Detlef ^c   Bruckner Tuderman, Leena ^d   Uitto, Jouni ^b   Wiche, Gerhard ^e   Schröder, Rolf ^f  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

^c UNIVERSITY OF WÜRZBURG   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF VIENNA   (Austria)

^f UNIVERSITY OF BONN   (Germany)

^g Institut für Pathologie   (Germany)

^h NONE

Author keywords

Epidermolysis bullosa simplex with muscular dystrophy; Plakin proteins; Plectin

Indexed keywords

CREATINE KINASE; GUANINE; MESSENGER RNA; PLECTIN; PROTEIN ANTIBODY;

AMINO TERMINAL SEQUENCE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BULLOUS SKIN DISEASE; CASE REPORT; CHILD; CLINICAL FEATURE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; EPIDERMOLYSIS BULLOSA SIMPLEX; EPIDERMOLYSIS BULLOSA SIMPLEX WITH MUSCULAR DYSTROPHY; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; MUSCULAR DYSTROPHY; PLECTIN GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RECURRENT DISEASE; RESPIRATORY DISTRESS SYNDROME; TRACHEOTOMY;

BASE SEQUENCE; BIOPSY; CHILD, PRESCHOOL; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MUCOUS MEMBRANE; MUSCULAR DYSTROPHIES; MUTATION; PLECTIN; SKIN;

EID: 2442675181     PISSN: 03406199     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00431-004-1410-4     Document Type: Article

References (25)

1. Banwell BL, Russel J, Fukudome T, Shen XM, Stilling G, Engel AG (1999) Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol 58: 832-846
2. Bauer JW, Rouan F, Kofler B, Rezniczek GA, Kornacker I, Muss W, Hametner R, Klausegger A, Huber A, Pohla-Gubo G, Wiche G, Uitto J, Hintner H (2001) A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency. Am J Pathol 158: 617-625
3. Chavanas S, Pulkkinen L, Gache Y, Smith FJ, McLean WH, Uitto J, Ortonne JP, Meneguzzi G (1996) A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 98: 2196-2200
4. Cui Y, Hagan KW, Zhang S, Peltz SW (1995) Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev 9: 423-436
5. Dang M, Pulkkinen L, Smith FJD, McLean WHI, Uitto J (1998) Novel compound heterozygous mutations in the plectin gene in epidermolysis bullosa with muscular dystrophy and the use of protein truncation test for detection of premature termination codon mutations. Lab Invest 78: 195-204
6. Eady RA, McGrath JA, McMillan JR (1994) Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction. J Invest Dermatol 103: 13-18
7. Fine JD, Bauer EA, McGuire J, Moshell A (1999) Epidermolysis bullosa: clinical, epidemiologic, and laboratory advances and the findings of the national epidermolysis bullosa registry. The Johns Hopkins University Press, Baltimore
8. Koss-Harnes D, Hoyheim B, Anton-Lamprecht I, Gjesti A, Jorgensen RS, Jahnsen FL, Olaisen B, Wiche G, Gedde-Dahl T Jr (2002) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations. J Invest Dermatol 118: 87-93
9. Kunz M, Rouan F, Pulkkinen L, Hamm H, Jeschke R, Bruckner-Tuderman L, Brocker EB, Wiche G, Uitto J, Zillikens D (2000) Epidermolysis bullosa simplex associated with severe mucous membrane involvement and novel mutations in the plectin gene. J Invest Dermatol 114: 376-380
10. Lanschuetzer CM, Klausegger A, Pohla-Gubo G, Hametner R, Richard G, Uitto J, Hintner H, Bauer JW (2003) A novel homozygous nonsense deletion/insertion mutation in the keratin 14 gene (Y248X; 744delC/insAG) causes recessive epidermolysis bullosa simplex type Kobner. Clin Exp Dermatol 28: 77-79
11. Lateo S, Pace J, Aquilina J, Galea Debono A, Apap Bologna F (1999) Plectin deficiency: a case report. In: Mallia C, Uitto J (eds) RheumaDerm: current issues in rheumatology and dermatology (advances in experimental biology and medicine series). Kluwer Academic/Plenum Publishers, New York, pp 551-555
12. Mellerio JE, Smith FJD, McMillan JR, McLean WHI, McGrath JA, Morrison GAJ, Tierney P, Abert TM, Wiche G, Leigh IM, Geddes JF, Lane EB, Uitto J, Eady RAJ (1997) Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases. Br J Dermatol 137: 898-906
13. Pohla-Gubo G, Lazarova Z, Giudice GJ, Liebert M, Grassegger A, Hintner H, Yancey KB (1995) Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa. Exp Dermatol 4: 199-206
14. Pulkkinen L, Smith FJD, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WHI, Uitto J (1996) Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet 5: 1539-1546
15. Rouan F, Pulkkinen L, Meneguzzi G, LaForgia S, Hyde P, Kim DU, Richard G, Uitto J (2000) Epidermolysis bullosa: novel and de novo premature termination codon and deletion mutations in the plectin gene predict late-onset muscular dystrophy. J Invest Dermatol 114: 381-387
16. Schröder R, Goebel HH (2002) Plectin deficiency. In: Karpati G (ed) Structural and molecular basis of skeletal muscle diseases. ISN Neuropath Press, Basel, pp 78-80
17. Schröder R, Warlo I, Herrmann H, van der Ven PFM, Klasen C, Blümcke I, Mundegar RR, Fürst DO, Goebel HH, Magin TM (1999) Immunogold EM reveals a close association of plectin and the desmin cytoskeleton in human skeletal muscle. EJCB 78: 288-295
18. Schröder R, Furst DO, Klasen C, Reimann J, Herrmann H, van der Ven PF (2000) Association of plectin with Z-discs is a prerequisite for the formation of the intermyofibrillar desmin cytoskeleton. Lab Invest 80: 455-464
19. Schröder R, Kunz WS, Rouan F, Pfendner E, Tolksdorf K, Kappes-Horn K, Altenschmidt-Mehring M, Knoblich R, van der Ven PF, Reimann J, Furst DO, Blumcke I, Vielhaber S, Zillikens D, Eming S, Klockgether T, Uitto J, Wiche G, Rolfs A (2002) Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J Neuropathol Exp Neurol 61: 520-530
20. Schröder R, Pacholsky D, Reimann J, Matten J, Wiche G, Furst DO, van der Ven PF (2002) Primary longitudinal adhesion structures: plectin-containing precursors of costameres in differentiating human skeletal muscle cells. Histochem Cell Biol 118: 301-310
21. Shimizu H, Takizawa Y, Pulkkinen L, Murata S, Kawai M, Hachisuka H, Udono M, Uitto J, Nishikawa T (1999) Epidermolysis bullosa simplex associated with muscular dystrophy: phenotype-genotype correlations and review of the literature. J Am Acad Dermatol 41: 950-956
22. Smith FJD, Eady RAJ, Leigh IM, McMillan JR, Rugg EL, Kelsell DP, Bryant SP, Spurr NK, Geddes JF, Kirtschig G, Milana G, de Bono AG, Owaribe K, Wiche G, Pulkkinen L, Uitto J, McLean WHI, Lane EB (1996) Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet 13: 450-457
23. Uitto J, Pulkkinen L, Smith FJD, McLean WHI (1996) Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol 5: 237-246
24. Wiche G (1998) Role of plectin in cytoskeleton organization and dynamics. J Cell Sci 111: 2477-2486
25. Yasukawa K, Sawamura D, McMillan JR, Nakamura H, Shimizu H (2002) Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. J Biol Chem 277: 2360-2370