Abstract
Background
CUL3-related neurodevelopmental disorder is a recently described rare genetic condition
characterized by global developmental delay and intellectual disability. Five affected
individuals have been reported worldwide. The molecular and phenotypic spectrum of
the disorder has yet to be fully elucidated. Splice variants in CUL3 are a well-described cause of pseudohypoaldosteronism type IIE; however, splice variants
have not been associated with the neurodevelopmental disorder. We report the first
individual with a neurodevelopmental disorder attributed to a CUL3 splice site variant.
Case Report
The patient presented with congenital developmental dysplasia of the hip and global
developmental delay. A de novo splice site variant (c.379-2A > G) was identified in CUL3 and is predicted to abolish the acceptor splice site.
Conclusion
This is the first report of an individual with a splice site variant causing CUL3-related neurodevelopmental disorder and expands our understanding of this rare condition.
Keywords
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Article info
Publication history
Published online: January 27, 2023
Accepted:
January 15,
2023
Received in revised form:
January 4,
2023
Received:
September 23,
2022
Identification
Copyright
© 2023 Published by Elsevier B.V. on behalf of The Japanese Society of Child Neurology. All rights reserved.
