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(The American Journal of Human Genetics 111, 364–382; February 1, 2024)
We wish to bring to readers’ attention information about individuals #6 and #7 with respect to the potential contribution of the CAMK2D p.Arg275His variant to their cognitive phenotype.
Individuals #6 and #7 were initially referred for genetic evaluation due to their diagnoses of cardiomyopathy in the context of a family history of dilated cardiomyopathy affecting their father and a third sibling. The father was deceased at the time of genetic counseling, and consent was unable to be obtained for the third sibling to be able to include them in this publication regarding their genotype or additional phenotypic status.
As noted in Table S3, both individuals #6 and #7 were found to carry a 16p11.2 microdeletion in addition to the CAMK2D p.Arg275His variant. The 16p11.2 microdeletion is an established risk factor for neurodevelopmental disorders (NDDs). We were recently given access to some information on the third sibling. He also carries the CAMK2D variant and underwent a heart transplant because of cardiac pathology. However, he did not have a history of developmental delays; he has not been tested for the 16p11.2 deletion. Additional clinical information for this individual is currently unavailable.
We acknowledge that we should have more explicitly discussed in the original paper the possibility that the neurodevelopmental features observed in individuals #6 and 7 could be attributable to the 16p11.2 microdeletion, or to a combined effect of the microdeletion and the CAMK2D variant. We apologise for any confusion this might have caused. Following the submission of our study, a neurodevelopmental phenotype was reported in another individual carrying the CAMK2D p.Arg275His variant.1 That study concluded that this variant is highly likely to explain the neurodevelopment disorders (as well as the cardiomyopathy). Taking into account all the available information at present, further evidence and understanding of the role of CAMK2D is needed to clarify the extent to which this variant contributes to the neurodevelopmental phenotype.
Contributor Information
Sébastien Küry, Email: sebastien.kury@chu-nantes.fr.
Geeske M. van Woerden, Email: g.vanwoerden@erasmusmc.nl.
Reference
- 1.Tolmacheva E.R., Shubina J., Kochetkova T.O., Ushakova L.V., Bokerija E.L., Vasiliev G.S., Mikhaylovskaya G.V., Atapina E.E., Zaretskaya N.V., Sukhikh G.T., et al. CAMK2D De Novo Missense Variant in Patient with Syndromic Neurodevelopmental Disorder: A Case Report. Genes. 2023;14:1177. doi: 10.3390/genes14061177. [DOI] [PMC free article] [PubMed] [Google Scholar]