Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2021 May;185(5):1519-1524.
doi: 10.1002/ajmg.a.62117. Epub 2021 Feb 25.

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

Celeste C Eno  1 , Jesper Graakjaer  2 , Dea Svaneby  2 , Mathilde Nizon  3 , Jessica Kianmahd  4 , Rebecca Signer  4 , Julian A Martinez-Agosto  4 , Fabiola Quintero-Rivera  5
Affiliations
Case Reports

14q32.11 microdeletion including CALM1, TTC7B, PSMC1, and RPS6KA5: A new potential cause of developmental and language delay in three unrelated patients

Celeste C Eno et al. Am J Med Genet A. 2021 May.

Abstract

Three unrelated patients with similar microdeletions of chromosome 14q32.11 with shared phenotypes including language and developmental delay, and four overlapping genes -CALM1, TTC7B, PSMC1, and RPS6KA5 have been presented. All four genes are expressed in the brain and have haploinsufficiency scores, which reflect low tolerance to loss of function variation. An insight on the genes in the overlapping region, which may influence the resulting phenotype has been provided. Given the three patients' similar phenotypes and lack of normal variation in this region, it was suggested that this microdeletion may be associated with developmental and language delay.

Keywords: CALM1; PSMC1; RPS6KA5; TTC7B; developmental delay; microdeletion 14q32.11.

PubMed Disclaimer

References

REFERENCES

    1. Baskin, J. M., Wu, X., Christiano, R., Oh, M. S., Schauder, C. M., Gazzerro, E., Messa, M., Baldassari, S., Assereto, S., Biancheri, R., Zara, F., Minetti, C., Raimondi, A., Simons, M., Walther, T. C., Reinisch, K. M., & De Camilli, P. (2016). The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane. Nature Cell Biology, 18(1), 132-138. https://doi.org/10.1038/ncb3271
    1. Bedford, L., Hay, D., Devoy, A., Paine, S., Powe, D. G., Seth, R., Gray, T., Topham, I., Fone, K., Rezvani, N., Mee, M., Soane, T., Layfield, R., Sheppard, P. W., Ebendal, T., Usoskin, D., Lowe, J., & Mayer, R. J. (2008). Depletion of 26S proteasomes in mouse brain neurons causes neurodegeneration and Lewy-like inclusions resembling human pale bodies. The Journal of Neuroscience, 28(33), 8189-8198. https://doi.org/10.1523/jneurosci.2218-08.2008
    1. Benítez-King, G., & Antón-Tay, F. (1993). Calmodulin mediates melatonin cytoskeletal effects. Experientia, 49(8), 635-641. https://doi.org/10.1007/bf01923944
    1. Collins, R. L., Brand, H., Karczewski, K. J., Zhao, X., Alföldi, J., Francioli, L. C., Khera, A. V., Lowther, C., Gauthier, L. D., Wang, H., Watts, N. A., Solomonson, M., O'Donnell-Luria, A., Baumann, A., Munshi, R., Walker, M., Whelan, C. W., Huang, Y., Brookings, T., … Talkowski, M. E. (2020). A structural variation reference for medical and population genetics. Nature, 581(7809), 444-451. https://doi.org/10.1038/s41586-020-2287-8
    1. Corrêa, S. A., Hunter, C. J., Palygin, O., Wauters, S. C., Martin, K. J., McKenzie, C., McKelvey, K., Morris, R. G., Pankratov, Y., Arthur, J. S., & Frenguelli, B. G. (2012). MSK1 regulates homeostatic and experience-dependent synaptic plasticity. The Journal of Neuroscience, 32(38), 13039-13051. https://doi.org/10.1523/jneurosci.0930-12.2012

Publication types

Substances

LinkOut - more resources