A novel IKBKG mutation in a patient with incontinentia pigmenti and features of hepatic ciliopathy

被引：1

作者：

Danescu, Sorina ^{[1
]}

Has, Cristina ^{[2
]}

Baican, Corina ^{[1
]}

Mueller, Thomas ^{[3
]}

Baican, Adrian ^{[1
]}

机构：

[1] Iuliu Hatieganu Univ Med & Pharm, Dept Dermatol, Clinicilor 3-5, Cluj Napoca 400006, Romania

[2] Univ Freiburg, Dept Dermatol, Med Ctr, Freiburg, Germany

[3] Innsbruck Med Univ, Dept Pediat 1, Innsbruck, Austria

来源：

AUSTRALASIAN JOURNAL OF DERMATOLOGY | 2018年 / 59卷 / 04期

关键词：

hepatic ciliopathy; IKBKG; incontinentia pigmenti; intrahepatic cholestasis; nuclear factor-kappa B; REARRANGEMENT;

D O I：

10.1111/ajd.12805

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We describe a new mutation in exon 4 of IKBKG, encoding nuclear factor-kappa B in a patient with incontinentia pigmenti. The patient had a severe cholestatic liver disease with features of a ciliopathy and underwent liver transplantation. We cannot establish a link between incontinentia pigmenti, a very rare disease, and hepatic ciliopathy, but we suggest that hepatic evaluation should be considered in patients with incontinentia pigmenti.

引用

页码：E262 / E265

页数：4

共 10 条

[1] Insight into IKBKG/NEMO Locus: Report of New Mutations and Complex Genomic Rearrangements Leading to Incontinentia Pigmenti Disease [J].

Conte, Matilde Immacolata ;

Pescatore, Alessandra ;

Paciolla, Mariateresa ;

Esposito, Elio ;

Miano, Maria Giuseppina ;

Lioi, Maria Brigida ;

McAleer, Maeve A. ;

Giardino, Giuliana ;

Pignata, Claudio ;

Irvine, Alan D. ;

Scheuerle, Angela E. ;

Royer, Ghislaine ;

Hadj-Rabia, Smail ;

Bodemer, Christine ;

Bonnefont, Jean-Paul ;

Munnich, Arnold ;

Smahi, Asma ;

Steffann, Julie ;

Fusco, Francesca ;

Ursini, Matilde Valeria .

HUMAN MUTATION, 2014, 35 (02) :165-177

[2] Incontinentia pigmenti: report on data from 2000 to 2013 [J].

Fusco, Francesca ;

Paciolla, Mariateresa ;

Conte, Matilde Immacolata ;

Pescatore, Alessandra ;

Esposito, Elio ;

Mirabelli, Peppino ;

Lioi, Maria Brigida ;

Ursini, Matilde Valeria .

ORPHANET JOURNAL OF RARE DISEASES, 2014, 9

[3] Mutations in DCDC2 (doublecortin domain containing protein 2) in neonatal sclerosing cholangitis [J].

Grammatikopoulos, Tassos ;

Sambrotta, Melissa ;

Strautnieks, Sandra ;

Foskett, Pierre ;

Knisely, A. S. ;

Wagner, Bart ;

Deheragoda, Maesha ;

Starling, Chris ;

Mieli-Vergani, Giorgina ;

Smith, Joshua ;

Bull, Laura ;

Thompson, Richard J. .

JOURNAL OF HEPATOLOGY, 2016, 65 (06) :1179-1187

[4] Somatic Mosaicism of a Novel IKBKG Mutation in a Male Patient with Incontinentia Pigmenti [J].

Hull, Sarah ;

Arno, Gavin ;

Thomson, Penelope ;

Mutch, Stacey ;

Webster, Andrew R. ;

Rai, Harjeet ;

Hill, Virginia ;

Moore, Anthony T. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2015, 167 (07) :1601-1604

[5] IκB Kinaseα/β Control Biliary Homeostasis and Hepatocarcinogenesis in Mice by Phosphorylating the Cell-Death Mediator Receptor-Interacting Protein Kinase 1 [J].

Koppe, Christiane ;

Verheugd, Patricia ;

Gautheron, Jeremie ;

Reisinger, Florian ;

Kreggenwinkel, Karina ;

Roderburg, Christoph ;

Quagliata, Luca ;

Terracciano, Luigi ;

Gassler, Nikolaus ;

Tolba, Rene H. ;

Boege, Yannick ;

Weber, Achim ;

Karin, Michael ;

Luedde, Mark ;

Neumann, Ulf P. ;

Weiskirchen, Ralf ;

Tacke, Frank ;

Vucur, Mihael ;

Trautwein, Christian ;

Luescher, Bernhard ;

Preisinger, Christian ;

Heikenwalder, Mathias ;

Luedde, Tom .

HEPATOLOGY, 2016, 64 (04) :1217-1231

[6] INCONTINENTIA PIGMENTI (BLOCH-SULZBERGER SYNDROME) [J].

LANDY, SJ ;

DONNAI, D .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (01) :53-59

[7] Incontinentia pigmenti diagnostic criteria update [J].

Minic, S. ;

Trpinac, D. ;

Obradovic, M. .

CLINICAL GENETICS, 2014, 85 (06) :536-542

[8] Liver involvement in children with ciliopathies [J].

Rock, N. ;

McLin, V. .

CLINICS AND RESEARCH IN HEPATOLOGY AND GASTROENTEROLOGY, 2014, 38 (04) :407-414

[9]

Smahi A, 2000, NATURE, V405, P466

[10] A novel PCR approach for prenatal detection of the common NEMO rearrangement in incontinentia pigmenti [J].

Steffann, J ;

Raclin, V ;

Smahi, A ;

Woffendin, H ;

Munnich, A ;

Kenwrick, SJ ;

Grebille, AG ;

Benachi, A ;

Dumez, Y ;

Bonnefont, JP ;

Hadj-Rabia, S .

PRENATAL DIAGNOSIS, 2004, 24 (05) :384-388

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