Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.11851/8724
Title: A Turkish case of incontinentia pigmenti with a deletion mutation at Inhibitor of kappa B kinase gamma gene
Authors: Ergin, Filiz Basak Cengiz
Tekin, Mustafa
Gunes, Meltem
Gunes, Begum
Baysun, Şahika
Akar, Nejat
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
https://hdl.handle.net/20.500.11851/8724
ISSN: 1110-8630
2090-2441
Appears in Collections:Dahili Tıp Bilimleri Bölümü / Department of Internal Medical Sciences
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection

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