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The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti

Title
The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti
Authors
Song M.-J.Chae J.-H.Park E.-A.Ki C.-S.
Ewha Authors
박은애
SCOPUS Author ID
박은애scopus
Issue Date
2010
Journal Title
Journal of Korean Medical Science
ISSN
1011-8934JCR Link
Citation
vol. 25, no. 10, pp. 1513 - 1517
Indexed
SCI; SCIE; SCOPUS; KCI WOS scopus
Abstract
Incontinentia pigmenti (IP) is a rare X-linked dominant disorder characterized by highly variable abnormalities of the skin, eyes and central nervous system. A mutation of the nuclear factor-κB essential modulator (NEMO) located at Xq28 is believed to play a role in pathogenesis and the mutation occurs mostly in female patients due to fatal consequence of the mutation in males in utero. This study was designed to identify the common NEMO rearrangement in four Korean patients with IP. Deletion of exons 4 to 10 in the NEMO, the most common mutation in IP patients, was detected in all of the patients by the use of long-range PCR analysis. This method enabled us to discriminate between NEMO and pseudogene rearrangements. Furthermore, all of the patients showed skewed XCI patterns, indicating pathogenicity of IP was due to cells carrying the mutant X chromosome. This is the first report of genetically confirmed cases of IP in Korea. © 2010 The Korean Academy of Medical Sciences.
DOI
10.3346/jkms.2010.25.10.1513
Appears in Collections:
의학전문대학원 > 의학과 > Journal papers
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