A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa

Veronica Rotemberg; Maria Garzon; Christine Lauren; Alejandro Iglesias; Sandhya S. Brachio; Vimla Aggarwal; Nicholas Stong; David B. Goldstein; Thomas Diacovo

doi:10.1016/j.jpeds.2017.08.029

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa

Veronica Rotemberg
, Maria Garzon
, Christine Lauren
, Alejandro Iglesias
, Sandhya S. Brachio
, Vimla Aggarwal
, Nicholas Stong
, David B. Goldstein
, Thomas Diacovo

Pediatrics

Columbia University

Research output: Contribution to journal › Article › peer-review

7 Scopus citations

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.

Original language	English
Pages (from-to)	266-269.e1
Journal	Journal of Pediatrics
Volume	191
DOIs	https://doi.org/10.1016/j.jpeds.2017.08.029
State	Published - Dec 2017

Keywords

desmosome
junctional plakoglobin (JUP)
lethal congenital epidermolysis bullosa
Naxos syndrome
skin fragility
whole-exome sequencing

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10.1016/j.jpeds.2017.08.029

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title = "A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa",

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.",

keywords = "desmosome, junctional plakoglobin (JUP), lethal congenital epidermolysis bullosa, Naxos syndrome, skin fragility, whole-exome sequencing",

author = "Veronica Rotemberg and Maria Garzon and Christine Lauren and Alejandro Iglesias and Brachio, \{Sandhya S.\} and Vimla Aggarwal and Nicholas Stong and Goldstein, \{David B.\} and Thomas Diacovo",

note = "Publisher Copyright: {\textcopyright} 2017 Elsevier Inc.",

year = "2017",

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doi = "10.1016/j.jpeds.2017.08.029",

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pages = "266--269.e1",

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T1 - A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa

AU - Rotemberg, Veronica

AU - Garzon, Maria

AU - Lauren, Christine

AU - Iglesias, Alejandro

AU - Brachio, Sandhya S.

AU - Aggarwal, Vimla

AU - Stong, Nicholas

AU - Goldstein, David B.

AU - Diacovo, Thomas

PY - 2017/12

Y1 - 2017/12

N2 - 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.

AB - 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.

KW - desmosome

KW - junctional plakoglobin (JUP)

KW - lethal congenital epidermolysis bullosa

KW - Naxos syndrome

KW - skin fragility

KW - whole-exome sequencing

UR - https://www.scopus.com/pages/publications/85033660538

U2 - 10.1016/j.jpeds.2017.08.029

DO - 10.1016/j.jpeds.2017.08.029

M3 - Article

C2 - 29173316

AN - SCOPUS:85033660538

SN - 0022-3476

VL - 191

SP - 266-269.e1

JO - Journal of Pediatrics

JF - Journal of Pediatrics

ER -

A Novel Mutation in Junctional Plakoglobin Causing Lethal Congenital Epidermolysis Bullosa

Abstract

Keywords

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