Abstract

Patients with variants in CUL4B exhibit syndromic intellectual disability (MIM #300354). A seven-year-old boy presented with intellectual disability, a history of seizure, characteristic facial features, and short stature. Whole-exome sequencing detected a c.974+3A>G variant in CUL4B, which was subsequently confirmed to disrupt mRNA splicing. The current patient showed less pronounced phenotypic features compared with the previously reported cases. This report, therefore, provides evidence of genotype–phenotype correlations in CUL4B-related disorders.

Details

Title
A novel CUL4B splice site variant in a young male exhibiting less pronounced features
Author
Nakamura, Yuji 1 ; Okuno Yusuke 2   VIAFID ORCID Logo  ; Muramatsu Hideki 3 ; Kawai Tomoko 4   VIAFID ORCID Logo  ; Satou Kazuhito 5 ; Ieda Daisuke 1 ; Hori Ikumi 1   VIAFID ORCID Logo  ; Ohashi Kei 1 ; Negishi Yutaka 1 ; Hattori Ayako 1 ; Takahashi, Yoshiyuki 3 ; Kojima Seiji 3 ; Saitoh Shinji 1   VIAFID ORCID Logo 

1  Nagoya City University Graduate School of Medical Sciences, Department of Pediatrics and Neonatology, Nagoya, Japan (GRID:grid.260433.0) (ISNI:0000 0001 0728 1069) 
2  Nagoya University Hospital, Center for Advanced Medicine and Clinical Research, Nagoya, Japan (GRID:grid.437848.4) (ISNI:0000 0004 0569 8970) 
3  Nagoya University Graduate School of Medicine, Department of Pediatrics, Nagoya, Japan (GRID:grid.27476.30) (ISNI:0000 0001 0943 978X) 
4  National Research Institute for Child Health and Development, Department of Maternal-Fetal Biology, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305) 
5  National Research Institute for Child Health and Development, Department of Genome Medicine, Tokyo, Japan (GRID:grid.63906.3a) (ISNI:0000 0004 0377 2305) 
Publication year
2019
Publication date
Sep 2019
Publisher
Springer Nature B.V.
e-ISSN
2054345X
Source type
Scholarly Journal
Language of publication
English
DOI
https://doi.org/10.1038/s41439-019-0074-6
ProQuest document ID
2284589161
Copyright
This work is published under http://creativecommons.org/licenses/by/4.0/ (the “License”). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.