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
. 2020 Nov;182(11):2788-2792.
doi: 10.1002/ajmg.a.61828. Epub 2020 Sep 9.

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

Cha Gon Lee  1 , Chang Ahn Seol  2   3 , Chang-Seok Ki  2
Affiliations
Case Reports

The first familial case of inherited intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) with a novel FBXO11 variant

Cha Gon Lee et al. Am J Med Genet A. 2020 Nov.

Abstract

Intellectual developmental disorder with dysmorphic facies and behavioral abnormalities (IDDFBA) caused by germline de novo variants in FBXO11 was recently recognized as a novel intellectual disability (ID) syndrome through reverse phenotyping after whole-exome sequencing (WES). Fewer than 50 disease-causing de novo FBXO11 variants in IDDFBA are reported thus far. Here, we present the first report of a family showing autosomal dominantly inherited IDDFBA, harboring a novel heterozygous variant in FBXO11 (c.2401_2405dup;p. Gly803Leufs*6) identified by WES. In this family, the mother and two daughters showed mild ID and mild facial dysmorphism. This finding is expected to increase our understanding of the genotype-phenotype of IDDFBA and to facilitate genetic counseling for the disorder caused by FBXO11.

Keywords: FBXO11; autosomal dominant; high-throughput nucleotide sequencing; intellectual disability; loss-of-function variant.

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

REFERENCES

    1. Au, P. Y., Argiropoulos, B., Parboosingh, J. S., & Micheil Innes, A. (2014). Refinement of the critical region of 1q41q42 microdeletion syndrome identifies FBXO28 as a candidate causative gene for intellectual disability and seizures. American Journal of Medical Genetics Part A, 164a(2), 441-448. https://doi.org/10.1002/ajmg.a.36320
    1. Deciphering Developmental Disorders Study. (2017). Prevalence and architecture of de novo mutations in developmental disorders. Nature, 542(7642), 433-438. https://doi.org/10.1038/nature21062
    1. Fagerberg, L., Hallström, B. M., Oksvold, P., Kampf, C., Djureinovic, D., Odeberg, J., … Uhlén, M. (2014). Analysis of the human tissue-specific expression by genome-wide integration of transcriptomics and antibody-based proteomics. Molecular & Cellular Proteomics, 13(2), 397-406. https://doi.org/10.1074/mcp.M113.035600
    1. Fritzen, D., Kuechler, A., Grimmel, M., Becker, J., Peters, S., Sturm, M., … Engels, H. (2018). De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies. Human Genetics, 137(5), 401-411. https://doi.org/10.1007/s00439-018-1892-1
    1. Geisheker, M. R., Heymann, G., Wang, T., Coe, B. P., Turner, T. N., Stessman, H. A. F., … Eichler, E. E. (2017). Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domains. Nature Neuroscience, 20(8), 1043-1051. https://doi.org/10.1038/nn.4589

Publication types

Substances

LinkOut - more resources