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 for this work

Research output: Contribution to journal › Journal article › Research › peer-review

2 Citations (Scopus)

36 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.

Original language	English
Article number	104335
Journal	European Journal of Medical Genetics
Volume	64
Issue number	11
ISSN	1769-7212
DOIs	https://doi.org/10.1016/j.ejmg.2021.104335
Publication status	Published - 2021

Bibliographical note

Publisher Copyright:
© 2021 The Authors

Keywords

Epidermolysis Bullosa
ILNEB
Interstitial Lung Disease
Lung transplantation
Nephrotic syndrome

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Cite this

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.

In: European Journal of Medical Genetics, Vol. 64, No. 11, 104335, 2021.

Research output: Contribution to journal › Journal article › Research › peer-review

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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.",

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AU - Perch, Michael

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AU - Jelsig, Anne Marie

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