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Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology

Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a...

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Main Authors: Kang, Nien How, Jing, Hazel Yi Leong, Dwi Pramono, Zacharias Aloysius, Kin, Fon Leong, Zee, Wei Lai, Wei, Hsum Yap
Format: Article
Published: Frontiers Research Foundation 2022
Online Access:http://psasir.upm.edu.my/id/eprint/102528/
https://www.frontiersin.org/articles/10.3389/fped.2022.900606/full
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spelling my.upm.eprints.1025282024-03-14T04:30:49Z http://psasir.upm.edu.my/id/eprint/102528/ Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology Kang, Nien How Jing, Hazel Yi Leong Dwi Pramono, Zacharias Aloysius Kin, Fon Leong Zee, Wei Lai Wei, Hsum Yap Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a regulatory protein involved in the nuclear factor kappa B (NF-κB) signaling pathway. NF-κB plays a prominent role in the modulation of cellular proliferation, apoptosis, and inflammation. IKBKG mutation that results in a loss-of-function or dysregulated NF-κB pathway contributes to the pathophysiology of IP. Aside from typical skin characteristics such as blistering rash and wart-like skin growth presented in IP patients, other clinical manifestations like central nervous system (CNS) and ocular anomalies have also been detected. To date, the clinical genotype-phenotype correlation remains unclear due to its highly variable phenotypic expressivity. Thus, genetic findings remain an essential tool in diagnosing IP, and understanding its genetic profile allows a greater possibility for personalized treatment. IP is slowly and gradually gaining attention in research, but there is much that remains to be understood. This review highlights the progress that has been made in IP including the different types of mutations detected in various populations, current diagnostic strategies, IKBKG pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder. Frontiers Research Foundation 2022-09 Article PeerReviewed Kang, Nien How and Jing, Hazel Yi Leong and Dwi Pramono, Zacharias Aloysius and Kin, Fon Leong and Zee, Wei Lai and Wei, Hsum Yap (2022) Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology. Frontiers in Pediatrics, 10. 01-9. ISSN 2296-2360 https://www.frontiersin.org/articles/10.3389/fped.2022.900606/full 10.3389/fped.2022.900606
institution Universiti Putra Malaysia
building UPM Library
collection Institutional Repository
continent Asia
country Malaysia
content_provider Universiti Putra Malaysia
content_source UPM Institutional Repository
url_provider http://psasir.upm.edu.my/
description Incontinentia pigmenti (IP) is an X-linked dominant genodermatosis. The disease is known to be caused by recurrent deletion of exons 4–10 of the Inhibitor Of Nuclear Factor Kappa B Kinase Regulatory Subunit Gamma (IKBKG) gene located at the Xq28 chromosomal region, which encodes for NEMO/IKKgamma, a regulatory protein involved in the nuclear factor kappa B (NF-κB) signaling pathway. NF-κB plays a prominent role in the modulation of cellular proliferation, apoptosis, and inflammation. IKBKG mutation that results in a loss-of-function or dysregulated NF-κB pathway contributes to the pathophysiology of IP. Aside from typical skin characteristics such as blistering rash and wart-like skin growth presented in IP patients, other clinical manifestations like central nervous system (CNS) and ocular anomalies have also been detected. To date, the clinical genotype-phenotype correlation remains unclear due to its highly variable phenotypic expressivity. Thus, genetic findings remain an essential tool in diagnosing IP, and understanding its genetic profile allows a greater possibility for personalized treatment. IP is slowly and gradually gaining attention in research, but there is much that remains to be understood. This review highlights the progress that has been made in IP including the different types of mutations detected in various populations, current diagnostic strategies, IKBKG pathophysiology, genotype-phenotype correlation, and treatment strategies, which provide insights into understanding this rare mendelian disorder.
format Article
author Kang, Nien How
Jing, Hazel Yi Leong
Dwi Pramono, Zacharias Aloysius
Kin, Fon Leong
Zee, Wei Lai
Wei, Hsum Yap
spellingShingle Kang, Nien How
Jing, Hazel Yi Leong
Dwi Pramono, Zacharias Aloysius
Kin, Fon Leong
Zee, Wei Lai
Wei, Hsum Yap
Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
author_facet Kang, Nien How
Jing, Hazel Yi Leong
Dwi Pramono, Zacharias Aloysius
Kin, Fon Leong
Zee, Wei Lai
Wei, Hsum Yap
author_sort Kang, Nien How
title Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
title_short Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
title_full Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
title_fullStr Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
title_full_unstemmed Uncovering incontinentia pigmenti: From DNA sequence to pathophysiology
title_sort uncovering incontinentia pigmenti: from dna sequence to pathophysiology
publisher Frontiers Research Foundation
publishDate 2022
url http://psasir.upm.edu.my/id/eprint/102528/
https://www.frontiersin.org/articles/10.3389/fped.2022.900606/full
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