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- Title
A Case of Incontinentia Pigmenti in Japan and Its Genetic Examination.
- Authors
Jane Huang; Hiroyuki Kondo; Eiichi Uchio
- Abstract
Abstract Purpose Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with approximately one-third of cases with associated ocular complications. Deletion of exons 4 to 10 of the nuclear factor κB essential modulator (NEMO) gene accounts for the majority of new mutations. The disease is more commonly found among Caucasians. We studied a case of an IP patient in Japan, and the genomic rearrangements. Methods An 11-month-old female infant exhibited the skin lesions of IP. Ocular findings were total retinal detachment with a retrolental fibrovascular mass in the right eye, and patchy retinal avascular zones and neovascularization in the left eye. The genomic rearrangement ofNEMOwas investigated by a polymerase chain reaction (PCR)-based diagnostic test. A skewed X-inactivation assay was also performed using the human androgen receptor gene as a genetic marker. Results Deletion of exons 4 to 10 inNEMOwas detected in the proband and in other female members of her family. A complete skewing of the X-inactivation pattern causing IP was observed, indicating cells having no protection against apoptosis in response to tumor necrosis factor as the pathogenicity of the disease. Conclusion This is the first case report of a Japanese female phenotype demonstrating the common genomic rearrangement in theNEMOgene.Jpn J Ophthalmol2007;51:142–145 Japanese Ophthalmological Society 2007
- Subjects
SKIN disease genetics; OCULAR manifestations of general diseases; GENETICS; NEOVASCULARIZATION; POLYMERASE chain reaction
- Publication
Japanese Journal of Ophthalmology, 2007, Vol 51, Issue 2, p142
- ISSN
0021-5155
- Publication type
Article
- DOI
10.1007/s10384-006-0412-3