AUTHOR=Chen Huaqing , Ji Xiaojuan , Lai Yun , Xie Ling , Wan Chunlei , Li Longnian 

TITLE=Novel IKBKG gene mutations in incontinentia pigmenti: report of two cases

JOURNAL=Frontiers in Medicine

VOLUME=10

YEAR=2023

URL=https://www.frontiersin.org/journals/medicine/articles/10.3389/fmed.2023.1303590

DOI=10.3389/fmed.2023.1303590

ISSN=2296-858X

ABSTRACT=<p>Incontinentia pigmenti (IP), an X-chromosome dominant genodermatosis caused by mutations in the <italic>IKBKG</italic>/<italic>NEMO</italic> gene, is a rare disease affecting the skin, teeth, eyes, and central nervous system. Here, we report two pedigrees of IP and detection of two novel mutations in the <italic>IKBKG</italic> gene associated with IP via genetic analysis. In addition, different gene mutation types can present with different clinical phenotypes, and the same gene mutation type can show different clinical phenotypes. This study provides clinical cases for further study of the genotype and phenotype of IP and enriches the mutation spectrum of <italic>IKBKG</italic> gene, which provides a basis for genetic counseling and genetic diagnosis of IP in the future.</p>