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

Research output: Contribution to journalArticlepeer-review

3 Citations (Scopus)

Abstract

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.

Original languageEnglish
Article number18006
JournalHuman Genome Variation
Volume5
DOIs
Publication statusPublished - 2018 Mar 8
Externally publishedYes

ASJC Scopus subject areas

  • Biochemistry
  • Genetics
  • Molecular Biology

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