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Hum Genome Var. 2018 Mar 8;5:18006. doi: 10.1038/hgv.2018.6. eCollection 2018.

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

Author information

1
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan.
2
Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan.
3
Department of Systems BioMedicine, National Research Institute for Child Health and Development, Tokyo, Japan.
4
Department of Genome Medicine, National Research Institute for Child Health and Development, Tokyo, Japan.
5
National Research Institute for Child Health and Development, Tokyo, Japan.

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.

Conflict of interest statement

The authors declare no conflict of interest.

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