Variable clinical consequences of mosaicism for c.1167dupC in <i>IKBKG</i> in male and female patients with incontinentia pigmenti and related phenotypes-Reference-Cited by-同舟云学术

Variable clinical consequences of mosaicism for c.1167dupC in IKBKG in male and female patients with incontinentia pigmenti and related phenotypes

Published:2023-10-25 Issue: Volume: Page:
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Acos Roy Luister C¹,Chang Yi-Han²³,Lin Yu-Chen²⁴,Salazar-Paras Dianne Katherine R¹,Fujimura Yu⁵⁶,Nakano Hajime⁷,Akasaka Eijiro⁷,Natsuga Ken⁵^ORCID,Guevara Bryan Edgar K⁸,McGrath John A⁹^ORCID,Hsu Chao-Kai¹⁴¹⁰^ORCID

Affiliation:

1. Department of Dermatology, Philippine General Hospital, University of the Philippines Manila , Philippines

2. Department of Dermatology

3. Education Center

4. International Center for Wound Repair and Regeneration (iWRR)

5. Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University , Sapporo , Japan

6. Department of Dermatology, KKR Sapporo Medical Center , Sapporo , Japan

7. Department of Dermatology, Hirosaki University Graduate School of Medicine , Hirosaki , Japan

8. Department of Dermatology, Southern Philippines Medical Center , Davao , Philippines

9. St John's Institute of Dermatology, School of Basic & Medical Biosciences, King's College London , London , UK

10. Institute of Clinical Medicine, College of Medicine, National Cheng Kung University , Tainan , Taiwan

Abstract

In the present study, we report a duplication variant found in two families with incontinentia pigmenti, which exhibited a variety of phenotypes in both male and female carriers. Although natural mosaicism through Lyonization, with variably skewed X-inactivation, accounts for the phenotype in females, our study also demonstrates that mosaicism, albeit through a different mechanism, should also be remembered in understanding the phenotypic expression of IKBKG-related disorders in some males.

Funder

National Cheng Kung University Hospital

Ministry of Health and Welfare

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad358/54945108/llad358.pdf

Reference6 articles.

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3. A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO);Zonana;Am J Hum Genet,2000

4. Atypical forms of incontinentia pigmenti in male individuals result from mutations of a cytosine tract in exon 10 of NEMO (IKK-gamma);Aradhya;Am J Hum Genet,2001

5. Female patient showing hypohidrotic ectodermal dysplasia and immunodeficiency (HED-ID);Kosaki;Am J Hum Genet,2001