The bulletin of the Yamaguchi Medical School

PISSN : 0513-1812
EISSN : 2436-696X

Continued by:Medical Science & Innovation
EISSN:2758-5441

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The bulletin of the Yamaguchi Medical School Volume 69 Issue 1-2
published_at 2022-06

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

A novel mutation in IKBKG gene in a female child with incontinentia pigmenti
Hirano Reiji
Yasudo Hiroki
Takada Hidetoshi
Ohga Shouichi
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A050069000103
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.
Creator Keywords
incontinentia pigmenti
IKBKG gene
CNS
X-linked
frameshift