TY - JOUR
T1 - A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder
AU - Iwafuchi, Sota
AU - Kikuchi, Atsuo
AU - Endo, Wakaba
AU - Inui, Takehiko
AU - Aihara, Yu
AU - Satou, Kazuhito
AU - Kaname, Tadashi
AU - Kure, Shigeo
N1 - Funding Information:
This research was supported by the Japanese Agency for Medical Research and Development (AMED) through grant number JP17ek0109151 (Initiative on Rare and Undiagnosed Diseases [IRUD] to S.K.). The authors thank the patient and families who participated in this study. We also thank Yoko Chiba and Kumi Ito for providing technical assistance. We also acknowledge the support from the Biomedical Research Core of the Tohoku University Graduate School of Medicine.
Funding Information:
This research was supported by the Japanese Agency for Medical Research and Development (AMED) through grant number JP17ek0109151 (Initiative on Rare and Undiagnosed Diseases [IRUD] to S.K.). The authors thank the patient and families who participated in this study. We also thank Yoko Chiba and Kumi Ito for providing technical assistance. We also acknowledge the support from the Biomedical Research Core of the Tohoku University Graduate School of Medicine. The authors declare no competing interests.
Publisher Copyright:
© 2020 The Japanese Society of Child Neurology
PY - 2021/2
Y1 - 2021/2
N2 - Background: CUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD. Case report: A 21-month-old Japanese girl presented with febrile status epilepticus and thereafter exhibited developmental regression, including loss of her verbal ability, eye contact, and skills in activities of daily living. Trio-based exome sequencing identified a de novo two-base insertion in CUL3, c.1758_1759insTG, p.(Thr587*). Conclusion: We report a case of a patient with ASD and a stop-gain CUL3 variant. Screening of CUL3 variants is worth considering for patients with ASD, especially those with Rett-like developmental regression.
AB - Background: CUL3 encodes cullin-3, a core component of a ubiquitin E3 ligase. CUL3 mutations have recently been associated with autism spectrum disorder (ASD); however, the detailed clinical courses have been described in only a limited number of patients with CUL3 mutations and neurodevelopmental diseases, including ASD. Case report: A 21-month-old Japanese girl presented with febrile status epilepticus and thereafter exhibited developmental regression, including loss of her verbal ability, eye contact, and skills in activities of daily living. Trio-based exome sequencing identified a de novo two-base insertion in CUL3, c.1758_1759insTG, p.(Thr587*). Conclusion: We report a case of a patient with ASD and a stop-gain CUL3 variant. Screening of CUL3 variants is worth considering for patients with ASD, especially those with Rett-like developmental regression.
KW - Autism spectrum disorder
KW - CUL3
KW - Whole-exome sequencing
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U2 - 10.1016/j.braindev.2020.09.015
DO - 10.1016/j.braindev.2020.09.015
M3 - Article
C2 - 33097317
AN - SCOPUS:85093100169
SN - 0387-7604
VL - 43
SP - 303
EP - 307
JO - Brain and Development
JF - Brain and Development
IS - 2
ER -