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  Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants

Scala, M., Anijs, M., Battini, R., Madia, F., Capra, V., Scudieri, P., et al. (2021). Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants. Italian Journal of Pediatrics, 47: 208. doi:10.1186/s13052-021-01162-w.

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This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder.

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Scala, Marcello1, 2, Author
Anijs, Midas3, 4, Author           
Battini, Roberta5, 6, Author
Madia, Francesca1, Author
Capra, Valeria1, Author
Scudieri, Paolo2, Author
Verrotti, Alberto7, Author
Zara, Federico1, Author
Minetti, Carlo1, 2, Author
Vernes, Sonja C.3, 8, 9, Author           
Striano, Pasquale1, 2, Author
Affiliations:
1IRCCS Istituto Giannina Gaslini , Genoa, Italy, ou_persistent22              
2University of Genoa, Genoa, Italy, ou_persistent22              
3Neurogenetics of Vocal Communication Group, MPI for Psycholinguistics, Max Planck Society, ou_2231636              
4International Max Planck Research School for Language Sciences, MPI for Psycholinguistics, Max Planck Society, Nijmegen, NL, ou_1119545              
5University of Pisa, Pisa, Italy, ou_persistent22              
6IRCCS Fondazione Stella Maris, Pisa, Italy, ou_persistent22              
7University of Perugia, Perugia, Italy, ou_persistent22              
8Donders Institute for Brain, Cognition and Behaviour, External Organizations, ou_55236              
9University of St Andrews , Fife, UK, ou_persistent22              

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 Abstract: Background

Heterozygous variants in CNTNAP2 have been implicated in a wide range of neurological phenotypes, including intellectual disability (ID), epilepsy, autistic spectrum disorder (ASD), and impaired language. However, heterozygous variants can also be found in unaffected individuals. Biallelic CNTNAP2 variants are rarer and cause a well-defined genetic syndrome known as CASPR2 deficiency disorder, a condition characterised by ID, early-onset refractory epilepsy, language impairment, and autistic features.
Case-report

A 7-year-old boy presented with hyperkinetic stereotyped movements that started during early infancy and persisted over childhood. Abnormal movements consisted of rhythmic and repetitive shaking of the four limbs, with evident stereotypic features. Additional clinical features included ID, attention deficit-hyperactivity disorder (ADHD), ASD, and speech impairment, consistent with CASPR2 deficiency disorder. Whole-genome array comparative genomic hybridization detected a maternally inherited 0.402 Mb duplication, which involved intron 1, exon 2, and intron 2 of CNTNAP2 (c.97 +?_209-?dup). The affected region in intron 1 contains a binding site for the transcription factor FOXP2, potentially leading to abnormal CNTNAP2 expression regulation. Sanger sequencing of the coding region of CNTNAP2 also identified a paternally-inherited missense variant c.2752C > T, p.(Leu918Phe).
Conclusion

This case expands the molecular and phenotypic spectrum of CASPR2 deficiency disorder, suggesting that Hyperkinetic stereotyped movements may be a rare, yet significant, clinical feature of this complex neurological disorder. Furthermore, the identification of an in-frame, largely non-coding duplication in CNTNAP2 points to a sophisticated underlying molecular mechanism, likely involving impaired FOXP2 binding.

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Language(s): eng - English
 Dates: 2021-10-12
 Publication Status: Published online
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 Table of Contents: -
 Rev. Type: Peer
 Identifiers: DOI: 10.1186/s13052-021-01162-w
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Title: Italian Journal of Pediatrics
Source Genre: Journal
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Pages: - Volume / Issue: 47 Sequence Number: 208 Start / End Page: - Identifier: ISSN: 1824-7288