A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene

Filiz Başak Cengiz Ergin, Mustafa Tekin, Meltem Güneş, Begüm Güneş, Şahika Baysun, Nejat Akar

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Incontinentia pigmenti (IP) is a rare X-linked dominant disorder affecting the skin and other ectodermal tissues that is caused by a mutation of the IKBKG/NEMO gene. Case presentation: We describe a Turkish family with IP. Sanger sequencing was performed in our patient with IP, and we identified DNA variant c.172_173delAA (p.Asn58SerfsTer79) in IKBKG. We found the same mutation in the patient's mother and grandmother. Conclusion: Our report expands the mutation spectrum in this disorder and provides valuable information on the importance of the IKBKG. Our study shows that confirmation of the mutation analysis of IP in the suspected cases is necessary for future planning pregnancies.

Original languageEnglish (US)
Article number6
JournalEgyptian Journal of Medical Human Genetics
Volume23
Issue number1
DOIs
StatePublished - Dec 2022
Externally publishedYes

ASJC Scopus subject areas

  • Genetics(clinical)

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