Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes.
Adaptor Proteins, Signal Transducing
/ genetics
Dystonin
/ genetics
Epidermolysis Bullosa
/ classification
Genetic Association Studies
High-Throughput Nucleotide Sequencing
Humans
Integrin alpha3
/ genetics
Molecular Diagnostic Techniques
Phenotype
Plectin
/ genetics
Repressor Proteins
/ genetics
Tetraspanin 24
/ genetics
Whole Genome Sequencing
blistering
epidermal adhesion
epidermolysis bullosa
genodermatosis
mutation
Journal
Experimental dermatology
ISSN: 1600-0625
Titre abrégé: Exp Dermatol
Pays: Denmark
ID NLM: 9301549
Informations de publication
Date de publication:
10 2019
10 2019
Historique:
accepted:
15
04
2018
pubmed:
22
4
2018
medline:
12
9
2020
entrez:
22
4
2018
Statut:
ppublish
Résumé
Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here, we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years.
Substances chimiques
Adaptor Proteins, Signal Transducing
0
CD151 protein, human
0
DST protein, human
0
Dystonin
0
EXPH5 protein, human
0
ITGA3 protein, human
0
Integrin alpha3
0
KLHL24 protein, human
0
PLEC protein, human
0
Plectin
0
Repressor Proteins
0
Tetraspanin 24
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1146-1152Subventions
Organisme : DEBRA International
Pays : International
Informations de copyright
© 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Références
H. Vahidnezhad, L. Youssefian, A. H. Saeidian, H. Mahmoudi, A. Touati, M. Abiri, A. M. Kajbafzadeh, S. Aristodemou, L. Liu, J. A. McGrath, A. Ertel, E. Londin, A. Kariminejad, S. Zeinali, P. Fortina, J. Uitto, Matrix Biol. 2018, 66, 22.
L. Bruckner-Tuderman, C. Has, J. Invest. Dermatol. 2012, 132(Suppl 3), E2.
C. Has, Y. He, J. Invest. Dermatol. 2016, 136, e65.
J.-D. Fine, L. Bruckner-Tuderman, R. A. Eady, E. A. Bauer, J. W. Bauer, C. Has, A. Heagerty, H. Hintner, A. Hovnanian, M. F. Jonkman, I. Leigh, M. P. Marinkovich, A. E. Martinez, J. A. McGrath, J. E. Mellerio, C. Moss, D. F. Murrell, H. Shimizu, J. Uitto, D. Woodley, G. Zambruno, J. Am. Acad. Dermatol. 2014, 70, 1103.
J. Uitto, L. Bruckner-Tuderman, J. A. McGrath, R. Riedl, C. Robinson, J. Invest. Dermatol. 2018, 138, 1010.
C. Has, J. Küsel, A. Reimer, J. Hoffmann, F. Schauer, A. Zimmer, J. Fischer, Acta Derm. Venereol. 2018, 98, 437.
C. Has, H. Schumann, J. Leppert, Y. He, B. Hartmann, I. Hausser, J. Kohlhase, J. Invest. Dermatol. 2017, 137, 2231.
N. Chmel, O. Bornert, I. Hausser, G. Grüninger, W. Borozkin, J. Kohlhase, A. Nyström, C. Has, J. Invest. Dermatol. 2018, 138, 987.
B. Mayer, P. Silló, M. Mazán, D. Pintér, M. Medvecz, C. Has, D. Castiglia, F. Petit, A. Charlesworth, Z. Hatvani, H. Pamjav, S. Kárpáti, Br. J. Dermatol. 2016, 175, 721.
N. Chmel, S. Danescu, A. Gruler, D. Kiritsi, L. Bruckner-Tuderman, A. Kreuter, J. Kohlhase, C. Has, J. Invest. Dermatol. 2015, 135, 2876.
Y. He, M. Balasubramanian, N. Humphreys, C. Waruiru, M. Brauner, J. Kohlhase, R. O'Reilly, C. Has, J. Invest. Dermatol. 2016, 136, 1056.
Z. Lin, S. Li, C. Feng, S. Yang, H. Wang, D. Ma, J. Zhang, M. Gou, D. Bu, T. Zhang, X. Kong, X. Wang, O. Sarig, Y. Ren, L. Dai, H. Liu, J. Zhang, F. Li, Y. Hu, G. Padalon-Brauch, D. Vodo, F. Zhou, T. Chen, H. Deng, E. Sprecher, Y. Yang, X. Tan, Nat. Genet. 2016, 48, 1508.
Y. He, K. Maier, J. Leppert, I. Hausser, A. Schwieger-Briel, L. Weibel, M. Theiler, D. Kiritsi, H. Busch, M. Boerries, K. Hannula-Jouppi, H. Heikkilä, K. Tasanen, D. Castiglia, G. Zambruno, C. Has, Am. J. Hum. Genet. 2016, 99, 1395.
J. Y. W. Lee, L. Liu, C.-K. Hsu, S. Aristodemou, L. Ozoemena, M. Ogboli, C. Moss, A. E. Martinez, J. E. Mellerio, J. A. McGrath, J. Invest. Dermatol. 2017, 137, 1378.
A. Kagan, S. Feld, J. Chemke, Y. Bar-Khayim, Nephron 1988, 49, 331.
V. Karamatic Crew, N. Burton, A. Kagan, C. A. Green, C. Levene, F. Flinter, R. L. Brady, G. Daniels, D. J. Anstee, Blood 2004, 104, 2217.
R. M. Baleato, P. L. Guthrie, M.-C. Gubler, L. K. Ashman, S. Roselli, Am. J. Pathol. 2008, 173, 927.
K. B. Gostyńska, M. Nijenhuis, H. Lemmink, H. H. Pas, A. M. Pasmooij, K. K. Lang, M. J. Castañón, G. Wiche, M. F. Jonkman, Hum. Mol. Genet. 2015, 24, 3155.
C. Prodinger, A. Klausegger, A. Diem, J. W. Bauer, M. Laimer, J. Eur. Acad. Dermatol. Venereol. 2017, 31, e373.
R. W. Groves, L. Liu, P. J. Dopping-Hepenstal, H. S. Markus, P. A. Lovell, L. Ozoemena, J. E. Lai-Cheong, J. Gawler, K. Owaribe, T. Hashimoto, J. E. Mellerio, J. B. Mee, J. A. McGrath, J. Invest. Dermatol. 2010, 130, 1551.
L. Liu, P. J. Dopping-Hepenstal, P. A. Lovell, M. Michael, H. Horn, K. Fong, J. E. Lai-Cheong, J. E. Mellerio, M. Parsons, J. A. McGrath, J. Invest. Dermatol. 2012, 132, 742.
T. Takeichi, A. Nanda, L. Liu, S. Aristodemou, J. R. McMillan, K. Sugiura, M. Akiyama, H. Al-Ajmi, M. A. Simpson, J. A. McGrath, Br. J. Dermatol. 2015, 172, 527.
I. Turcan, A. M. G. Pasmooij, A. Gostyński, P. C. van den Akker, H. H. Lemmink, G. F. H. Diercks, H. H. Pas, R. J. Sinke, M. F. Jonkman, J. Invest. Dermatol. 2017, 137, 2227.
Y. He, J. Leppert, H. Steinke, C. Has, Acta Derm. Venereol. 2017, 97, 657.
G. Cappuccio, M. Pinelli, A. Torella, M. Alagia, R. Auricchio, A. StaianoV. Nigro; TUDP, N. Brunetti-Pierri, Expanding the phenotype of DST-related disorder: a case report suggesting a genotype/phenotype correlation. Am. J. Med. Genet. A 2017, 173, 2743.
J. A. McGrath, K. L. Stone, R. Begum, M. A. Simpson, P. J. Dopping-Hepenstal, L. Liu, J. R. McMillan, A. P. South, C. Pourreyron, W. H. McLean, A. E. Martinez, J. E. Mellerio, M. Parsons, Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility. Am. J. Hum. Genet. 2012, 91, 1115.
M. Pigors, A. Schwieger-Briel, J. Leppert, D. Kiritsi, J. Kohlhase, L. Bruckner-Tuderman, C. Has, Molecular heterogeneity of epidermolysis bullosa simplex: contribution of EXPH5 mutations. J. Invest. Dermatol. 2014, 134, 842.
N. Malchin, O. Sarig, M. Grafi-Cohen, S. Geller, I. Goldberg, A. Shani, A. Gat, E. Sprecher, J. Mashiah, A novel homozygous deletion in EXPH5 causes a skin fragility phenotype. Clin. Exp. Dermatol. 2016, 41, 915.
E. Rashidghamat, L. Ozoemena, L. Liu, J. A. McGrath, A. E. Martinez, J. E. Mellerio, Mutations in EXPH5 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex. Br. J. Dermatol. 2016, 174, 452.
I. Turcan, A. M. G. Pasmooij, P. C. Van den Akker, H. Lemmink, R. J. Sinke, M. F. Jonkman, Association of Epidermolysis Bullosa Simplex With Mottled Pigmentation and EXPH5 Mutations. JAMA Dermatol. 2016, 152, 1137.
C. Has, Y. He, Renal-skin syndromes. Cell Tissue Res. 2017, 369, 63.
C. Has, G. Spartà, D. Kiritsi, L. Weibel, A. Moeller, V. Vega-Warner, A. Waters, Y. He, Y. Anikster, P. Esser, B. K. Straub, I. Hausser, D. Bockenhauer, B. Dekel, F. Hildebrandt, L. Bruckner-Tuderman, G. F. Laube, Integrin α3 mutations with kidney, lung, and skin disease. N. Engl. J. Med. 2012, 366, 1508.
N. Nicolaou, C. Margadant, S. H. Kevelam, M. R. Lilien, M. J. Oosterveld, M. Kreft, A. M. van Eerde, R. Pfundt, P. A. Terhal, B. van der Zwaag, P. G. Nikkels, N. Sachs, R. Goldschmeding, N. V. Knoers, K. Y. Renkema, A. Sonnenberg, Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome. J. Clin. Invest. 2012, 122, 4375.
E. G. Yalcin, Y. He, D. Orhan, C. Pazzagli, N. Emiralioglu, C. Has, Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome. Hum. Mol. Genet. 2015, 24, 3679.
S. Lovric, H. Fang, V. Vega-Warner, C. E. Sadowski, H. Y. Gee, J. Halbritter, S. Ashraf, P. Saisawat, N. A. Soliman, J. A. Kari, E. A. Otto, Hildebrandt F; Nephrotic Syndrome Study Group. Rapid Detection of Monogenic Causes of Childhood-Onset Steroid-Resistant Nephrotic Syndrome. Clin. J. Am. Soc. Nephrol. 2014, 9, 1109.
R. Shukrun, A. Vivante, O. Pleniceanu, E. Vax, Y. Anikster, B. Dekel, D. Lotan, A human integrin-alpha3 mutation confers major renal developmental defects. PLoS ONE 2014, 9, e90879.
E. A. Colombo, L. Spaccini, L. Volpi, G. Negri, D. Cittaro, D. Lazarevic, S. Zirpoli, A. Farolfi, C. Gervasini, M. V. Cubellis, L. Larizza, Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J. Rare Dis. 2016, 11, 136.
M. J. Castañón, G. Walko, L. Winter, G. Wiche, Plectin-intermediate filament partnership in skin, skeletal muscle, and peripheral nerve. Histochem. Cell Biol. 2013, 140, 33.