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

Ergin F. B., Tekin M., Gunes M., Gunes B., Baysun S., Akar N.

EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, cilt.23, sa.1, 2022 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 23 Sayı: 1
  • Basım Tarihi: 2022
  • Doi Numarası: 10.1186/s43042-022-00215-x
  • Dergi Adı: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus, Academic Search Premier, Arab World Research Source, EMBASE, Directory of Open Access Journals
  • Gazi Üniversitesi Adresli: Evet

Özet

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.