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 Apr;185(4):1321-1323.
doi: 10.1002/ajmg.a.62077. Epub 2021 Jan 11.

MBD5-related intellectual disability in a Vietnamese child

Thanh Nha Uyen Le  1   2 , Thi Minh Thi Ha  1   2   3
Affiliations
Case Reports

MBD5-related intellectual disability in a Vietnamese child

Thanh Nha Uyen Le et al. Am J Med Genet A. 2021 Apr.

Abstract

The disruption of methyl-binding domain protein 5 (MBD5) gene has been determined as a significant cause of a group of disorders known as MBD5-associated neurodevelopmental disorder. Here, we report a novel pathogenic mutation, NM_001378120.1 (MBD5): c.217-1G>C, occurring at the acceptor splicing site of intron 6 of the MBD5 gene identified in a Vietnamese child with intellectual disability, autistic-like behaviors, and seizure. Phenotypic manifestations in this patient are highlighted with neurodevelopmental impairments whereas his facial dysmorphism is unremarkable. Our finding has enriched the understanding of the spectrum of MBD5 variants, a critical database for diagnosis, genetic counseling, and management of the patients with neurological diseases.

Keywords: MBD5 gene; c.217-1G>C; intellectual disability; seizure; splicing site mutation.

PubMed Disclaimer

References

REFERENCES

    1. Bonnet, C., Khan, A. A., Bresso, E., Vigouroux, C., Béri, M., Lejczak, S., … Moncla, A. (2013). Extended spectrum of MBD5 mutations in neurodevelopmental disorders. European Journal of Human Genetics, 21(12), 1457-1461. https://doi.org/10.1038/ejhg.2013.22
    1. Laget, S., Joulie, M., Le Masson, F., Sasai, N., Christians, E., Pradhan, S., … Defossez, P.-A. (2010). The human proteins MBD5 and MBD6 associate with heterochromatin but they do not bind methylated DNA. PLoS One, 5(8), e11982. https://doi.org/10.1371/journal.pone.0011982
    1. Mullegama, S. V., & Elsea, S. H. (2016). Clinical and molecular aspects of MBD5-associated neurodevelopmental disorder (MAND). European Journal of Human Genetics, 24(9), 1235-1243. https://doi.org/10.1038/ejhg.2016.35
    1. Talkowski, M. E., Mullegama, S. V., Rosenfeld, J. A., Van Bon, B. W., Shen, Y., Repnikova, E. A., … Ruderfer, D. M. (2011). Assessment of 2q23. 1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder. The American Journal of Human Genetics, 89(4), 551-563. https://doi.org/10.1016/j.ajhg.2011.09.011
    1. Verhoeven, W., Egger, J., Kipp, J., Verheul-aan de Wiel, J., Ockeloen, C., Kleefstra, T., & Pfundt, R. (2019). A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia? Molecular Genetics & Genomic Medicine, 7(8), e849. https://doi.org/10.1002/mgg3.849

Publication types

LinkOut - more resources