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A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder

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Acknowledgments

We are grateful to the patient and her parents for their participation. This work was partially supported by Telethon Grant n. GGP15171 to Elena Bonora.

Author information

Authors and Affiliations

  1. Unit of Medical Genetics, S. Orsola-Malpighi Hospital, Via Massarenti 9, 40138, Bologna, Italy

    Claudio Graziano, Giulia Severi, Tommaso Pippucci, Federica Isidori & Elena Bonora

  2. Department of Pharmacology, University of Cologne, Cologne, Germany

    Patrick Despang & Jan Matthes

  3. IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Clinica Neurologica, Bologna, Italy

    Flavia Palombo

  4. IRCCS Istituto Delle Scienze Neurologiche Di Bologna, UOC Neuropsichiatria Infantile, Bologna, Italy

    Annio Posar

  5. Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy

    Annio Posar

  6. Unit of Pediatrics, S. Orsola-Malpighi Hospital, Bologna, Italy

    Alessandra Cassio

Authors
  1. Claudio Graziano
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  2. Patrick Despang
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  3. Flavia Palombo
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  4. Giulia Severi
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  5. Annio Posar
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  6. Alessandra Cassio
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  7. Tommaso Pippucci
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  8. Federica Isidori
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  9. Jan Matthes
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  10. Elena Bonora
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Contributions

CG conceived and designed the study, analyzed the data, and wrote the paper. PD performed the elecrtophysiological studies and contributed to the writing of the paper. FP, TP, FI performed the sequencing and bioinformatic analyses. GS, AP, AC provided the patient data. JM performed the elecrtophysiological studies and contributed to the writing of the paper. EB supervised the research and co-wrote the paper. All authors read and approved the final manuscript.

Corresponding authors

Correspondence to Claudio Graziano or Elena Bonora.

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Conflict of interest

The authors declare no competing interests.

Informed Consent

Informed consent for genetic analysis and publication of results was obtained from the patient’s parents in compliance with national ethics regulation.

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Supplementary file1 (DOCX 16 kb)

Supplementary Figure 1

CACNB2 p.Arg70Cys mutation. (a) Representation of CACNB2 homozygous mutation (Integrative Genomic Viewer, IGV) identified by WES in the proband. (b) Electropherograms of the sequences of parents (heterozygous carriers) and proband (homozygous patient). (c) GTEx Portal Expression profiles for CACNB2 isoforms: the different exons and expressed transcripts are displayed. Color intensity represents the level of transcript expression, calculated as Transcripts Per Million (TPM), in the specified tissue. The majority of CACNB2 transcripts expressed in heart does not include exon 2a, where the p.Arg70Cys variant maps (red arrow) (PPTX 903 kb)

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Graziano, C., Despang, P., Palombo, F. et al. A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder. J Autism Dev Disord 51, 377–381 (2021). https://doi.org/10.1007/s10803-020-04551-y

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  • DOI: https://doi.org/10.1007/s10803-020-04551-y

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