Lethal acantholytic epidermolysis bullosa due to a novel homozygous deletion in DSP: Expanding the phenotype and implications for desmoplakin function in skin and heart

British Journal of Dermatology

Volumn 162, Issue 6, 2010, Pages 1388-1394

  Bolling, M C ^a   Veenstra, M J ^a   Jonkman, M F ^a   Diercks, G F H ^a   Curry, C J ^b,c   Fisher, J ^b   Pas, H H ^a   Bruckner, A L ^d  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b Genetic Medicine Central California   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d STANFORD UNIVERSITY   (United States)

Author keywords

Cardiomyopathy; Desmoplakin; Desmosome; Genodermatosis; Lethal acantholytic epidermolysis bullosa

Indexed keywords

DESMOPLAKIN; GENOMIC DNA;

ADULT; ALOPECIA; AMNION FLUID; ANONYCHIA; ARTICLE; CARBOXY TERMINAL SEQUENCE; CARDIOMYOPATHY; CASE REPORT; CHROMOSOME DELETION; CLINODACTYLY; CONSANGUINEOUS MARRIAGE; EAR MALFORMATION; ELECTRON MICROSCOPY; EPIDERMOLYSIS BULLOSA; FEMALE; GROWTH RETARDATION; HEART VENTRICLE CONTRACTILITY; HEART VENTRICLE HYPERTROPHY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; LETHAL ACANTHOLYTIC EPIDERMOLYSIS BULLOSA; MALE; MUTATIONAL ANALYSIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FAILURE; RNA SPLICING; SKIN BIOPSY;

CARDIOMYOPATHY, HYPERTROPHIC, FAMILIAL; CONSANGUINITY; DESMOPLAKINS; EPIDERMOLYSIS BULLOSA; FATAL OUTCOME; HUMANS; IMMUNOHISTOCHEMISTRY; INFANT, NEWBORN; MALE; PHENOTYPE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION;

EID: 77952707927     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2010.09668.x     Document Type: Article

References (27)

1. Lechler T, Fuchs E. Desmoplakin: An unexpected regulator of microtubule organization in the epidermis. J Cell Biol 2007 176 : 147 154.
2. Sonnenberg A, Liem RK. Plakins in development and disease. Exp Cell Res 2007 313 : 2189 2203.
3. Green KJ, Simpson CL. Desmosomes: new perspectives on a classic. J Invest Dermatol 2007 127 : 2499 2515.
4. Stappenbeck TS, Green KJ. The desmoplakin carboxyl terminus coaligns with and specifically disrupts intermediate filament networks when expressed in cultured cells. J Cell Biol 1992 116 : 1197 1209.
5. Stappenbeck TS, Bornslaeger EA, Corcoran CM et al. Functional analysis of desmoplakin domains: Specification of the interaction with keratin versus vimentin intermediate filament networks. J Cell Biol 1993 123 : 691 705.
6. Kowalczyk AP, Bornslaeger EA, Borgwardt JE et al. The amino-terminal domain of desmoplakin binds to plakoglobin and clusters desmosomal cadherin-plakoglobin complexes. J Cell Biol 1997 139 : 773 784.
7. Smith EA, Fuchs E. Defining the interactions between intermediate filaments and desmosomes. J Cell Biol 1998 141 : 1229 1241.
8. Bornslaeger EA, Godsel LM, Corcoran CM et al. Plakophilin 1 interferes with plakoglobin binding to desmoplakin, yet together with plakoglobin promotes clustering of desmosomal plaque complexes at cell-cell borders. J Cell Sci 2001 114 : 727 738.
9. Green KJ, Goldman RD, Chisholm RL. Isolation of cDNAs encoding desmosomal plaque proteins: evidence that bovine desmoplakins I and II are derived from two mRNAs and a single gene. Proc Natl Acad Sci USA 1988 85 : 2613 2617.
10. O'Keefe EJ, Erickson HP, Bennett V. Desmoplakin I and desmoplakin II. Purification and characterization. J Biol Chem 1989 264 : 8310 8318.
11. Green KJ, Parry DA, Steinert PM et al. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 1990 265 : 11406 11407.
12. Cowin P, Kapprell HP, Franke WW. The complement of desmosomal plaque proteins in different cell types. J Cell Biol 1985 101 : 1442 1454.
13. Angst BD, Nilles LA, Green KJ. Desmoplakin II expression is not restricted to stratified epithelia. J Cell Sci 1990 97 : 247 257.
14. Uzumcu A, Norgett EE, Dindar A et al. Loss of desmoplakin isoform I causes early onset cardiomyopathy and heart failure in a Naxos-like syndrome. J Med Genet 2006 43 : e5.
15. Gallicano GI, Kouklis P, Bauer C et al. Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol 1998 143 : 2009 2022.
16. Vasioukhin V, Bowers E, Bauer C et al. Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol 2001 3 : 1076 1085.
17. Lai-Cheong JE, Arita K, McGrath JA. Genetic diseases of junctions. J Invest Dermatol 2007 127 : 2713 2725.
18. Jonkman MF, Pasmooij AM, Pasmans SG et al. Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa. Am J Hum Genet 2005 77 : 653 660.
19. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988 16 : 1215.
20. Whittock NV, Ashton GH, Dopping-Hepenstal PJ et al. Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency. J Invest Dermatol 1999 113 : 940 946.
21. Jonkman MF, De Jong MC, Heeres K et al. A 180-kD bullous pemphigoid antigen (BP180) is deficient in generalized atrophic benign epidermolysis bullosa. J Clin Invest 1995 95 : 1345 1352.
22. McMillan JR, Haftek M, Akiyama M et al. Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1. J Invest Dermatol 2003 121 : 96 103.
23. Lapouge K, Fontao L, Champliaud MF et al. New insights into the molecular basis of desmoplakin- and desmin-related cardiomyopathies. J Cell Sci 2006 119 : 4974 4985.
24. Nagy E, Maquat LE. A rule for termination-codon position within intron-containing genes: when nonsense affects RNA abundance. Trends Biochem Sci 1998 23 : 198 199.
25. Norgett EE, Hatsell SJ, Carvajal-Huerta L et al. Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma. Hum Mol Genet 2000 9 : 2761 2766.
26. Alcalai R, Metzger S, Rosenheck S et al. A recessive mutation in desmoplakin causes arrhythmogenic right ventricular dysplasia, skin disorder, and woolly hair. J Am Coll Cardiol 2003 42 : 319 327.
27. Gallicano GI, Bauer C, Fuchs E. Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development 2001 128 : 929 941.