Adult Onset X-Linked Chronic Granulomatous Disease in a Woman Patient Caused by a de novo Mutation in Paternal-Origin CYBB Gene and Skewed Inactivation of Normal Maternal X Chromosome

Takahisa Gono; Masahide Yazaki; Kazunaga Agematsu; Masayuki Matsuda; Kozo Yasui; Maki Yamaura; Fumio Hidaka; Tomoyuki Mizukami; Hiroyuki Nunoi; Takeo Kubota; Shu-ichi Ikeda

doi:10.2169/internalmedicine.47.0919

CASE REPORTS

Adult Onset X-Linked Chronic Granulomatous Disease in a Woman Patient Caused by a de novo Mutation in Paternal-Origin CYBB Gene and Skewed Inactivation of Normal Maternal X Chromosome

Takahisa Gono, Masahide Yazaki, Kazunaga Agematsu, Masayuki Matsuda, Kozo Yasui, Maki Yamaura, Fumio Hidaka, Tomoyuki Mizukami, Hiroyuki Nunoi, Takeo Kubota, Shu-ichi Ikeda

Author information

Takahisa Gono
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
Masahide Yazaki
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
Kazunaga Agematsu
Department of Pediatrics, Shinshu University School of Medicine
Masayuki Matsuda
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine
Kozo Yasui
Department of Pediatrics, Shinshu University School of Medicine
Maki Yamaura
Department of Dermatology, Shinshu University School of Medicine
Fumio Hidaka
Department of Pediatrics, Miyazaki Medical College, University of Miyazaki
Tomoyuki Mizukami
Department of Pediatrics, Miyazaki Medical College, University of Miyazaki
Hiroyuki Nunoi
Department of Pediatrics, Miyazaki Medical College, University of Miyazaki
Takeo Kubota
Department of Epigenetic Medicine, Faculty of Medicine, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi
Shu-ichi Ikeda
Department of Medicine (Neurology and Rheumatology), Shinshu University School of Medicine

Keywords: chronic granulomatous disease, gp91^phox, CYBB, X-chromosome

JOURNAL OPEN ACCESS

2008 Volume 47 Issue 11 Pages 1053-1056

DOI https://doi.org/10.2169/internalmedicine.47.0919

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Abstract

We report a 28-year-old woman patient suffering from refractory subcutaneous abscess. Stimuli-induced microbicidal reactive oxygen metabolites formation test of the patient's neutrophils revealed that only 9.6% of the neutrophils produced H₂O₂. DNA analysis of the CYBB that encodes gp91^phox demonstrated that she was heterozygous for a nonsense mutation, ²⁰⁶Trp(TGG)/stop(TGA) and therefore, a diagnosis of adult onset X-linked chronic granulomatous disease was made. Our molecular biological study revealed that her disease was caused by a de novo mutation in the CYBB gene on the paternal-origin X-chromosome and a skewed inactivation of the normal maternal X-chromosome.

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