Abstract
Mutations in COL17A1, coding for type XVII collagen, cause junctional epidermolysis bullosa with an ultrastructural plane of cleavage through the lamina lucida of the epidermal basement membrane. To identify the COL17A1 mutations in a child with reduced type XVII collagen expression and intraepidermal blister formation. Protein expression and level of tissue separation were studied by immunofluorescence and electron microscopy. The mutations were identified by analysing the patient's DNA and mRNA. Immunofluorescence microscopy performed on nonlesional skin demonstrated absence of the type XVII collagen endodomain and presence, although reduced, of the shed ectodomain. Electron microscopy showed that the plane of cleavage was through the basal cells, not through the lamina lucida. Two heterozygous mutations were identified in COL17A1: a new 3'-acceptor splice-site mutation in intron 21 (1877-2A-->C), and a deletion in exon 48 (3432delT). The splice-site mutation in intron 21 results in alternative transcripts of which two are in-frame, with deletions of the first nine codons of exon 22 and the entire exon 22, respectively. By Western blot analysis, a type XVII collagen molecule was detected that was slightly smaller than normal....Continue Reading
References
Sep 1, 1992·The Journal of Investigative Dermatology·G J GiudiceL A Diaz
Feb 1, 1991·Experimental Cell Research·K OwaribeW W Franke
Jan 1, 1986·The Journal of Investigative Dermatology·M J Tidman, R A Eady
Mar 1, 1995·The Journal of Clinical Investigation·M F JonkmanA Sonnenberg
Jun 7, 1996·The Journal of Biological Chemistry·Y HirakoK Owaribe
Feb 21, 1997·Cell·M F JonkmanJ Uitto
Apr 1, 1997·The Journal of Investigative Dermatology·H H PasM F Jonkman
Mar 24, 1997·The Journal of Cell Biology·L BorradoriA Sonnenberg
Mar 20, 1998·The Journal of Investigative Dermatology·J J ZoneM J Petersen
May 23, 1998·The Journal of Biological Chemistry·Y HirakoK Owaribe
Sep 25, 1998·The Journal of Biological Chemistry·H SchäckeL Bruckner-Tuderman
Feb 15, 2000·Clinical and Experimental Dermatology·K MolnarH H Pas
Feb 13, 2001·The Journal of Investigative Dermatology·L RuzziM D'Alessio
Jun 15, 2001·Laboratory Investigation; a Journal of Technical Methods and Pathology·M R van LeusdenM F Jonkman
Feb 20, 2002·The Journal of Investigative Dermatology·Marcel HuberLeena Bruckner-Tuderman
Dec 18, 2002·The Journal of Investigative Dermatology·Marcel F JonkmanGerritvander Steege
Mar 11, 2004·Experimental Dermatology·A M G PasmooijH H Pas
Citations
Sep 6, 2005·Nucleic Acids Research·Jana KrálovicováIgor Vorechovský
Dec 1, 2009·Dermatologic Clinics·Cristina Has, Johannes S Kern
Feb 10, 2012·The Journal of Investigative Dermatology·Anna M G PasmooijMarcel F Jonkman
Feb 18, 2011·The Journal of Investigative Dermatology·Mariella D'AlessandroE Birgitte Lane
Aug 21, 2008·Clinical and Experimental Dermatology·E YiasemidesD F Murrell
Feb 1, 2007·The British Journal of Dermatology·A M G PasmooijM F Jonkman
Apr 7, 2011·The British Journal of Dermatology·W Y YuenM F Jonkman
May 8, 2010·Dermatologic Clinics·Robin A J Eady, Patricia J C Dopping-Hepenstal
Dec 17, 2014·Cell and Tissue Research·Iana Turcan, Marcel F Jonkman
Jul 31, 2018·Arkhiv patologii·S G LykovaS V Aidagulova