Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys

Authors

  • Sang Gyun Lee
  • Song Ee Kim
  • Soo-Chan Kim
  • Sang Eun Lee Department of Dermatology, Gangnam Severance Hospital, 211 Eonju-ro, Gangnam-gu, Seoul 06273, Korea

DOI:

https://doi.org/10.2340/actadv.v101.897

Abstract

Abstract is missing (Short communication)

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References

Has C, Sparta G, Kiritsi D, Weibel L, Moeller A, Vega-Warner V, et al. Integrin alpha3 mutations with kidney, lung, and skin disease. N Engl J Med 2012; 366: 1508-1514.

https://doi.org/10.1056/NEJMoa1110813

Kreidberg JA, Donovan MJ, Goldstein SL, Rennke H, Shepherd K, Jones RC, et al. Alpha 3 beta 1 integrin has a crucial role in kidney and lung organogenesis. Development 1996; 122: 3537-3547.

https://doi.org/10.1242/dev.122.11.3537

Yalcin EG, He Y, Orhan D, Pazzagli C, Emiralioglu N, Has C. Crucial role of posttranslational modifications of integrin alpha3 in interstitial lung disease and nephrotic syndrome. Hum Mol Genet 2015; 24: 3679-3688.

https://doi.org/10.1093/hmg/ddv111

Colombo EA, Spaccini L, Volpi L, Negri G, Cittaro D, Lazarevic D, et al. Viable phenotype of ILNEB syndrome without nephrotic impairment in siblings heterozygous for unreported integrin alpha3 mutations. Orphanet J Rare Dis 2016; 11: 136.

https://doi.org/10.1186/s13023-016-0514-z

Nicolaou N, Margadant C, Kevelam SH, Lilien MR, Oosterveld MJ, Kreft M, et al. Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome. J Clin Invest 2012; 122: 4375-4387.

https://doi.org/10.1172/JCI64100

Shukrun R, Vivante A, Pleniceanu O, Vax E, Anikster Y, Dekel B, et al. A human integrin-alpha3 mutation confers major renal developmental defects. PLoS One 2014; 9: e90879.

https://doi.org/10.1371/journal.pone.0090879

Cohen-Barak E, Danial-Farran N, Khayat M, Chervinsky E, Nevet JM, Ziv M, et al. A nonjunctional, nonsyndromic case of junctional epidermolysis bullosa with renal and respiratory involvement. JAMA Dermatol 2019; 155: 498-500.

https://doi.org/10.1001/jamadermatol.2018.5368

He Y, Balasubramanian M, Humphreys N, Waruiru C, Brauner M, Kohlhase J, et al. Intronic ITGA3 mutation impacts splicing regulation and causes interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa. J Invest Dermatol 2016; 136: 1056-1059.

https://doi.org/10.1016/j.jid.2015.11.031

Kinyo A, Kovacs AL, Degrell P, Kalman E, Nagy N, Karpati S, et al. Homozygous ITGA3 missense mutation in adults in a family with syndromic epidermolysis bullosa (ILNEB) without pulmonary involvement. J Invest Dermatol 2021; 141: 2752-2756.

https://doi.org/10.1016/j.jid.2021.03.029

He Y, Thriene K, Boerries M, Hausser I, Franzke CW, Busch H, et al. Constitutional absence of epithelial integrin alpha3 impacts the composition of the cellular microenvironment of ILNEB keratinocytes. Matrix Biol 2018; 74: 62-76.

https://doi.org/10.1016/j.matbio.2018.07.001

Conti FJ, Rudling RJ, Robson A, Hodivala-Dilke KM. alpha3beta1-integrin regulates hair follicle but not interfollicular morphogenesis in adult epidermis. J Cell Sci 2003; 116: 2737-2747.

https://doi.org/10.1242/jcs.00475

DenBesten PK, Machule D, Zhang Y, Yan Q, Li W. Characterization of human primary enamel organ epithelial cells in vitro. Arch Oral Biol 2005; 50: 689-694.

https://doi.org/10.1016/j.archoralbio.2004.12.008

Cameli N, Picardo M, Tosti A, Perrin C, Pisani A, Ortonne JP. Expression of integrins in human nail matrix. Br J Dermatol 1994; 130: 583-588.

https://doi.org/10.1111/j.1365-2133.1994.tb13103.x

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Published

2022-01-31

How to Cite

Lee, S. G., Kim, S. E., Kim, S.-C., & Lee, S. E. (2022). Biallelic Missense Mutations in the Integrin Alpha 3 Gene Causes Skin Fragility Without Structural Defects in Lungs and Kidneys. Acta Dermato-Venereologica, 102, adv00642. https://doi.org/10.2340/actadv.v101.897

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