A novel stop-gain CUL3 mutation in a Japanese patient with autism spectrum disorder |
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Authors: | Sota Iwafuchi Atsuo Kikuchi Wakaba Endo Takehiko Inui Yu Aihara Kazuhito Satou Tadashi Kaname Shigeo Kure |
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Affiliation: | 1. Department of Pediatrics, Tohoku University Graduate School of Medicine, 2-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi 980-8575, Japan;2. Department of Pediatric Neurology, Miyagi Children’s Hospital, 4-3-17 Ochiai, Aoba-ku, Sendai, Miyagi 989-3126, Japan;3. Department of Genome Medicine, National Center for Child Health and Development, Setagaya, Tokyo 157-8535, Japan |
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Abstract: | BackgroundCUL3 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 reportA 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*).ConclusionWe 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. |
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Keywords: | Autism spectrum disorder Whole-exome sequencing |
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