Srpski arhiv za celokupno lekarstvo 2015 Volume 143, Issue 11-12, Pages: 752-754
https://doi.org/10.2298/SARH1512752M
Full text ( 3026 KB)
A novel frameshift mutation of the IKBKG gene causing typical incontinentia pigmenti
Minić Snežana (School of Medicine, Belgrade + Clinical Center of Serbia, Dermatovenerology Clinic, Belgrade)
Trpinac Dušan (School of Medicine, Institute of Histology and Embryology, Belgrade)
Obradović Miljana (School of Medicine, Institute of Histology and Embryology, Belgrade)
Introduction. Incontinentia pigmenti (IP) is a rare X-linked dominant
genodermatosis. Mutations of the IKBKG gene are responsible for IP. A
deletion of exons 4-10 can be found in 80% of patients with IP. There are 69
different mutations of the IKBKG gene that have been reported. Case Outline.
A proband, female patient from a family without previously diagnosed IP is
reported. She had skin and dental changes typical of IP. The diagnosis was
made according to updated IP criteria. Pathohistological and ultrastructural
analysis of skin biopsy confirmed the diagnosis. However, the common deletion
of exons 4-10 in the IKBKG gene could not be detected. Sequencing revealed
the indel (deletion/insertion) mutation c.641_647delGCATGGAinsAT
(p.Arg214HisfsX38) in exon 5 of the IKBKG gene. Because this mutation could
not be detected in the unaffected mother of the proband, it seems to be a de
novo mutation. Conclusion. The registered novel frameshift IKBKG mutation
c.641_647delGCATGGAinsAT (p.Arg214HisfsX38) can be considered to be the cause
of IP in this case.
Keywords: incontinentia pigmenti, IKBKG gene, frameshift mutation, genodermatosis, diagnosis
Projekat Ministarstva nauke Republike Srbije, br.
175005