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|Title:||A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene||Authors:||Ergin, Filiz Basak Cengiz
|Keywords:||Nemo||Issue Date:||2022||Publisher:||Springernature||Source:||Ergin, F. B. C., Tekin, M., Güneş, M., Güneş, B., Baysun, Ş., & Akar, N. (2022). A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene. Egyptian Journal of Medical Human Genetics, 23(1), 1-4.||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.||URI:||https://doi.org/10.1186/s43042-022-00215-x
|Appears in Collections:||Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences|
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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checked on Feb 6, 2023
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