Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism-Reference-Cited by-同舟云学术

Analysis of IKBKG/NEMO gene in five Japanese cases of incontinentia pigmenti with retinopathy: fine genomic assay of a rare male case with mosaicism

Published:2020-09-09 Issue:2 Volume:66 Page:205-214
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Haque Muhammad Nazmul,Ohtsubo Masafumi^ORCID,Nishina Sachiko,Nakao Shiro,Yoshida Kazue,Hosono Katsuhiro,Kurata Kentaro,Ohishi Kentaro,Fukami Maki^ORCID,Sato Miho,Hotta Yoshihiro^ORCID,Azuma Noriyuki,Minoshima Shinsei

Funder

HUSM Grant-in-Aid 2019

Japan Agency for Medical Research and Development

MEXT | Japan Society for the Promotion of Science

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

https://www.nature.com/articles/s10038-020-00836-3.pdf

Reference26 articles.

1. Landy SJ, Donnai D. Incontinentia pigmenti (Bloch-Sulzberger syndrome). J Med Genet. 1993;30:53–9.

2. Smahi A, Courtois G, Vabres P, Yamaoka S, Heuertz S, Munnich A, et al. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium. Nature. 2000;405:466–72.

3. Parrish JE, Scheuerle AE, Lewis RA, Levy ML, Nelson DL. Selection against mutant alleles in blood leukocytes is a consistent feature in Incontinentia Pigmenti type 2. Hum Mol Genet. 1996;5:1777–83.

4. Woffendin H, Jakins T, Jouet M, Stewart H, Landy S, Haan E, et al. X-inactivation and marker studies in three families with incontinentia pigmenti: implications for counselling and gene localisation. Clin Genet. 1999;55:55–60.

5. Kunze J, Frenzel UH, Hüttig E, Grosse F-R, Wiedemann H-R. Klinefelter’s syndrome and incontinentia pigmenti Bloch-Sulzberger. Hum Genet. 1977;35:237–40.

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