Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder

Yutaka Furuta; Rory J Tinker; Ryan M Dahlhauser; John A Phillips

doi:10.7759/cureus.78706

journal article Feb 07, 2025

Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder

Yutaka Furuta

Rory J Tinker Ryan M Dahlhauser John A Phillips

Cureus · Springer Science and Business Media LLC

View at Publisher Save 10.7759/cureus.78706

Topics

No keywords indexed for this article. Browse by subject →

References

5

[1]

Bressan GM, Daga-Gordini D, Colombatti A, Castellani I, Marigo V, Volpin D. Emilin, a component of elastic fibers preferentially located at the elastin-microfibrils interface. J Cell Biol. 1993, 121:201-12. 10.1083/jcb.121.1.201 10.1083/jcb.121.1.201

[2]

Capuano A, Bucciotti F, Farwell KD, et al.. Diagnostic exome sequencing identifies a novel gene, EMILIN1, associated with autosomal-dominant hereditary connective tissue disease. Hum Mutat. 2016, 37:84-97. 10.1002/humu.22920 10.1002/humu.22920

[3]

Adamo CS, Beyens A, Schiavinato A, et al.. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis. Am J Hum Genet. 2022, 109:2230-52. 10.1016/j.ajhg.2022.10.010 10.1016/j.ajhg.2022.10.010

[4]

Iacomino M, Doliana R, Marchese M, et al.. Distal motor neuropathy associated with novel EMILIN1 mutation. Neurobiol Dis. 2020, 137:104757. 10.1016/j.nbd.2020.104757 10.1016/j.nbd.2020.104757

[5]

Braverman G, Shapiro ZE, Bernstein JA. Ethical issues in contemporary clinical genetics. Mayo Clin Proc Innov Qual Outcomes. 2018, 2:81-90. 10.1016/j.mayocpiqo.2018.03.005 10.1016/j.mayocpiqo.2018.03.005

Metrics

1

Citations

5

References

Details

Published: Feb 07, 2025

Authors

Cite This Article

Yutaka Furuta, Rory J Tinker, Ryan M Dahlhauser, et al. (2025). Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder. Cureus. https://doi.org/10.7759/cureus.78706

Correcting Lab Misinterpretations of Variants of Unknown Significance: A Case Study of EMILIN1 Variants in an Autosomal Recessive Disorder

You May Also Like