Article
Three novel DNMT3B mutations in Japanese patients with ICF syndrome.
American journal of medical genetics - 15 Sept 2002
Shirohzu Hisao, Kubota Takeo, Kumazawa Azumi, Sado Takashi, Chijiwa Takahito, Inagaki Kouichi, Suetake Isao, Tajima Shoji, Wakui Keiko, Miki Yuko, Hayashi Masatoshi, Fukushima Yoshimitsu, Sasaki Hiroyuki
Abstract excerpt
ICF syndrome is a rare autosomal recessive disorder characterized by immunodeficiency, centromeric instability, and facial anomalies. It is caused by mutations in a de novo DNA methyltransferase gene, DNMT3B. We here report the first three Japanese cases of ICF syndrome from two unrelated families. All patients had typical facial dysmorphism and immunoglobulin A (IgA) deficiency, but none of them had apparent...
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