De novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome

Congenit Anom (Kyoto). 2019 Nov;59(6):193-194. doi: 10.1111/cga.12322. Epub 2019 Jan 2.

Authors

Taichi Imaizumi^{1

2}, Yukiko Mogami³, Nobuhiko Okamoto⁴, Keiko Yamamoto-Shimojima², Toshiyuki Yamamoto²

Affiliations

¹ Department of Pediatrics, St. Marianna University, School of Medicine, Kawasaki, Japan.
² Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.
³ Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Osaka, Japan.
⁴ Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.

PMID: 30536491
DOI: 10.1111/cga.12322

No abstract available

Publication types

Case Reports

MeSH terms

Chromosome Deletion*
Chromosomes, Human, Pair 1 / genetics
Humans
Infant
Intellectual Disability / genetics
Intellectual Disability / physiopathology*
Male
RNA-Binding Proteins / genetics*
Spasms, Infantile / genetics
Spasms, Infantile / physiopathology*

Substances

PUM1 protein, human
RNA-Binding Proteins