Srpski arhiv za celokupno lekarstvo 2013 Volume 141, Issue 7-8, Pages: 490-494
https://doi.org/10.2298/SARH1308490M
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First IKBKG gene mutation study in Serbian incontinentia pigmenti patients
Minić Snežana (Klinički centar Srbije, Klinika za dermatovenerologiju, Beograd + Medicinski fakultet, Beograd)
Trpinac Dušan (Institut za histologiju i embriologiju „Prof. dr Aleksandar Đ. Kostić“, Medicinski fakultet, Beograd)
Gabriel Heinz (Diagenos, Center for Medical Genetics, Osnabrueck, Germany)
Gencik Martin (Diagenos, Center for Medical Genetics, Osnabrueck, Germany)
Obradović Miljana (Institut za histologiju i embriologiju „Prof. dr Aleksandar Đ. Kostić“, Medicinski fakultet, Beograd)
Introduction. Incontinentia pigmenti (IP) is a rare X-linked dominant
genodermatosis. Mutations of the IKBKG gene are the only known cause of IP.
The presence of other than skin changes is important in the diagnosis of
atypical IP cases when skin changes are discrete. Objective. The study was
designed to analyze clinical manifestation, family histories and the
frequency of IKBKG gene mutation in IP patients in Serbia for the first time
and to compare them with other reported findings. Methods. Two Serbian
unrelated families with eight female subjects were investigated. Blood
samples were used for IKBKG exon 4-10 deletion testing using modified PCR
protocol. For probands pathohistological and ultrastructural analyses of skin
biopsies were done. Results. Positive clinical diagnosis according to IP
criteria was present in seven cases. In six of them, including probands,
positive molecular gene testing for IKBKG exon 4-10 deletion was present.
Conclusion. This is the first report of genetically confirmed IP in two
Serbian families. The IP patients presented a common IKBKG exon 4-10
deletion. The frequency and type of IKBKG mutation found in investigated IP
patients in Serbia were similar to results of other studies. Various clinical
features of investigated patients have allowed us to demonstrate that
molecular genetic testing which specifically detects the common IKBKG
mutations, the only known cause of IP, is useful in diagnosing IP especially
in mild or atypical cases. The molecular genetic testing of the IKBKG
mutations may be helpful for rapid confirmation of IP diagnosis, prenatal
diagnosis and carrier detection.
Keywords: Incontinentia pigmenti, IKBKG gene, IKBKG exon 4-10 deletion, X-chromosome, X-chromosome inactivation, phenotype