An unclassified variant of CHD7 activates a cryptic splice site in a patient with CHARGE syndrome

Yuko Katoh-Fukui, Shuichi Yatsuga, Hirohito Shima, Atsushi Hattori, Akie Nakamura, Kohji Okamura, Kumiko Yanagi, Manami Iso, Tadashi Kaname, Yoichi Matsubara, Maki Fukami

研究成果: Article査読

3 被引用数 (Scopus)

抄録

CHARGE syndrome is a rare autosomal dominant disease that is typically caused by heterozygous CHD7 mutations. A de novo variant in a CHD7 splicing acceptor site (NM-017780.3:c.7165-4A>G) was identified in a Japanese boy with CHARGE syndrome. This variant has been considered to be an "unclassified variant" due to its position outside the consensus splicing sites. In this study, abnormal splicing derived from this known variant was confirmed by cDNA sequencing.

本文言語English
論文番号18006
ジャーナルHuman Genome Variation
5
DOI
出版ステータスPublished - 2018 3 8
外部発表はい

ASJC Scopus subject areas

  • 生化学
  • 遺伝学
  • 分子生物学

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