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

University of Copenhagen
Great Ormond Street Hospital for Children NHS Foundation Trust
National Institute for Health and Care Research

Research output: Contribution to journal › Article › peer-review

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
DOIs	https://doi.org/10.1016/j.ejmg.2021.104335
Publication status	Published - Nov 2021
Externally published	Yes

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Epidermolysis Bullosa
ILNEB
Interstitial Lung Disease
Lung transplantation
Nephrotic syndrome

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10.1016/j.ejmg.2021.104335

Cite this

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title = "First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood",

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.",

keywords = "Epidermolysis Bullosa, ILNEB, Interstitial Lung Disease, Lung transplantation, Nephrotic syndrome",

author = "Morten Alstrup and Marks, \{Stephen D.\} and Jakob Ek and Frederik Buchvald and Lund, \{Thomas Kromann\} and Michael Perch and Waters, \{Aiofe M.\} and Mette Mogensen and Jelsig, \{Anne Marie\}",

note = "Publisher Copyright: {\textcopyright} 2021 The Authors",

year = "2021",

month = nov,

doi = "10.1016/j.ejmg.2021.104335",

language = "English",

volume = "64",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson s.r.l.",

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T1 - First patient with ILNEB syndrome due to pathogenic variants in ITGA3 surviving to adulthood

AU - Alstrup, Morten

AU - Marks, Stephen D.

AU - Ek, Jakob

AU - Buchvald, Frederik

AU - Lund, Thomas Kromann

AU - Perch, Michael

AU - Waters, Aiofe M.

AU - Mogensen, Mette

AU - Jelsig, Anne Marie

PY - 2021/11

Y1 - 2021/11

N2 - 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.

AB - 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.

KW - Epidermolysis Bullosa

KW - ILNEB

KW - Interstitial Lung Disease

KW - Lung transplantation

KW - Nephrotic syndrome

UR - https://www.scopus.com/pages/publications/85114646455

U2 - 10.1016/j.ejmg.2021.104335

DO - 10.1016/j.ejmg.2021.104335

M3 - Article

C2 - 34492382

AN - SCOPUS:85114646455

SN - 1769-7212

VL - 64

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 11

M1 - 104335

ER -

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

Abstract

UN SDGs

Keywords

Access to Document

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