A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa - 23/11/17
Doi : 10.1016/j.jpeds.2017.08.029
Veronica Rotemberg, MD, PhD 1, * 
, Maria Garzon, MD 1, 2, Christine Lauren, MD 1, 2, Alejandro Iglesias, MD 2, 3, Sandhya S. Brachio, MD 2, Vimla Aggarwal, MBBS 4, Nicholas Stong, PhD 5, David B. Goldstein, PhD 6, Thomas Diacovo, MD 2, 4
, Maria Garzon, MD 1, 2, Christine Lauren, MD 1, 2, Alejandro Iglesias, MD 2, 3, Sandhya S. Brachio, MD 2, Vimla Aggarwal, MBBS 4, Nicholas Stong, PhD 5, David B. Goldstein, PhD 6, Thomas Diacovo, MD 2, 4 1 Department of Dermatology, Columbia University, New York, NY
2 Department of Pediatrics, Columbia University, New York, NY
3 Department of Clinical Genetics, Columbia University, New York, NY
4 Department of Pathology and Cell Biology, Columbia University, New York, NY
5 Institute for Genomic Medicine, Columbia University, New York, NY
6 Department of Genetics and Development, Columbia University, New York, NY
*Reprint requests: Veronica Rotemberg, MD, PhD, Department of Dermatology, Columbia University, 161 Ft Washington Ave, Herbert Irving Pavilion, 12th Fl, New York, NY 10065.Department of DermatologyColumbia University161 Ft Washington Ave, Herbert Irving Pavilion, 12th FlNew YorkNY10065
Abstract |
We report a case of neonatal generalized erythema and epidermolysis resulting from a novel mutation in the junctional plakoglobin gene causing truncation of the plakoglobin protein. Expedited genetic testing enabled diagnosis while the patient was in the neonatal intensive care unit, providing valuable information for the clinicians and family.
Il testo completo di questo articolo è disponibile in PDF.Keywords : desmosome, junctional plakoglobin (JUP), whole-exome sequencing, skin fragility, lethal congenital epidermolysis bullosa, Naxos syndrome
Abbreviations : JUP, WES
Mappa
| The authors declare no conflicts of interest. |
© 2017
Elsevier Inc. Tutti i diritti riservati.
Vol 191
P. 266 - dicembre 2017 Ritorno al numero
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