First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

Morten Alstrup; Stephen D. Marks; Jakob Ek; Frederik Buchvald; Thomas Kromann Lund; Michael Perch; Aiofe M. Waters; Mette Mogensen; Anne Marie Jelsig

doi:10.1016/j.ejmg.2021.104335

First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

Morten Alstrup^*, Stephen D. Marks, Jakob Ek, Frederik Buchvald, Thomas Kromann Lund, Michael Perch, Aiofe M. Waters, Mette Mogensen, Anne Marie Jelsig

^*Corresponding author af dette arbejde

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

3 Citationer (Scopus)

80 Downloads (Pure)

Abstract

Interstitial Lung disease, Nephrotic syndrome and Epidermolysis Bullosa, also referred to as ILNEB syndrome is an extremely rare autosomal recessive condition, caused by pathogenic variants in ITGA3. 11 patients have previously been diagnosed with ILNEB syndrome of whom 7 died in infancy or early childhood. We report the only patient with ILNEB syndrome who survived past adolescence, partly due to a double lung transplant. Additionally, our patient showed oral, nasal and gynecological symptoms not previously reported in patients with ILNEB syndrome.

Originalsprog	Engelsk
Artikelnummer	104335
Tidsskrift	European Journal of Medical Genetics
Vol/bind	64
Udgave nummer	11
ISSN	1769-7212
DOI	https://doi.org/10.1016/j.ejmg.2021.104335
Status	Udgivet - 2021

Bibliografisk note

Funding Information:
This project was supported by the National Institute for Health Research (NIHR) Biomedical Research Centre at Great Ormond Street Hospital for Children NHS Foundation Trust and University College London . The views expressed are those of the authors and not necessarily those of the NHS, the NIHR or the Department of Health. This paper is dedicated to the memory of O.A.T.H.

Publisher Copyright:
© 2021 The Authors

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10.1016/j.ejmg.2021.104335Licens: CC BY

First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthoodForlagets udgivne version, 3,35 MBLicens: CC BY

Citationsformater

First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood. / Alstrup, Morten; Marks, Stephen D.; Ek, Jakob; Buchvald, Frederik; Lund, Thomas Kromann; Perch, Michael; Waters, Aiofe M.; Mogensen, Mette; Jelsig, Anne Marie.

I: European Journal of Medical Genetics, Bind 64, Nr. 11, 104335, 2021.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

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AU - Lund, Thomas Kromann

AU - Perch, Michael

AU - Waters, Aiofe M.

AU - Mogensen, Mette

AU - Jelsig, Anne Marie

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KW - ILNEB

KW - Interstitial Lung Disease

KW - Lung transplantation

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