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Shimomura Yutaka

Affiliate Master Yamaguchi University

A novel mutation in IKBKG gene in a female child with incontinentia pigmenti

The bulletin of the Yamaguchi Medical School Volume 69 Issue 1-2 Page 21-25
published_at 2022-06
A050069000103
1.94 MB
Title
A novel mutation in IKBKG gene in a female child with incontinentia pigmenti
Abstract
Incontinentia pigmenti (IP; OMIM# 308300) is a rare inherited disease caused by a mutation of IKBKG, which is also known as NEMO, located on Xq28. IP patients usually present with abnormalities of skin, eyes, nails and central nervous system. The neurological damege, which occur usually from neonatal through the early infantile period, leads to neulogical complication such as development retardation, motor paralysis and epilepsy. However, there has been little study done concerning the effect of therapy for the neural abnormalities. We have investigated the clinical findings in a female IP case with a novel mutation of IKBKG for six years due to disclosing the neurological prognosis and the immunological features. It is hoped that the present study will contribute to a better management of IP patients.
Creators Sakata Yasufumi
Affiliate Master Yamaguchi University
[kakenhi]15501 grid.268397.1
Creators Hirano Reiji
Creators Yasudo Hiroki
Creators Shimomura Yutaka
Affiliate Master Yamaguchi University
[kakenhi]15501 grid.268397.1
Creators Takada Hidetoshi
Creators Suehiro Yutaka
Affiliate Master Yamaguchi University
[kakenhi]15501 grid.268397.1
Creators Ohga Shouichi
Creators Hasegawa Shunji
Affiliate Master Yamaguchi University
[kakenhi]15501 grid.268397.1
Source Identifiers [PISSN] 0513-1812 [EISSN] 2436-696X
Creator Keywords
incontinentia pigmenti IKBKG gene CNS X-linked frameshift
Languages eng
Resource Type departmental bulletin paper
Publishers Yamaguchi University School of Medicine
Date Issued 2022-06
File Version Version of Record
Access Rights open access
Schools 大学院医学系研究科(医学)