Learning disability and myoclonic epilepsy associated with apparently synonymous but splice-disrupting JMJD1C variant that led to 21 bp deletion of the transcript

Am J Med Genet A. 2020 Dec;182(12):3064-3067. doi: 10.1002/ajmg.a.61892. Epub 2020 Sep 30.

Authors

Mamiko Yamada¹, Tatsuyuki Sokoda², Tomoko Uehara¹, Hisato Suzuki¹, Toshiki Takenouchi³, Tatsuhiko Yagihashi¹, Yoshihiro Maruo², Kenjiro Kosaki¹

Affiliations

¹ Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
² Department of Pediatrics, Shiga University of Medical Science Hospital, Shiga, Japan.
³ Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.

PMID: 32996679
DOI: 10.1002/ajmg.a.61892

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Child
Epilepsies, Myoclonic / genetics
Epilepsies, Myoclonic / pathology*
Humans
Jumonji Domain-Containing Histone Demethylases / genetics*
Learning Disabilities / genetics
Learning Disabilities / pathology*
Male
Mutation*
Oxidoreductases, N-Demethylating / genetics*
Phenotype
RNA Splicing*
Sequence Deletion*

Substances

JMJD1C protein, human
Jumonji Domain-Containing Histone Demethylases
Oxidoreductases, N-Demethylating