Intronic ITGA3 Mutation Impacts Splicing Regulation and Causes Interstitial Lung Disease, Nephrotic Syndrome, and Epidermolysis Bullosa

J Invest Dermatol. 2016 May;136(5):1056-1059. doi: 10.1016/j.jid.2015.11.031. Epub 2016 Feb 15.

Authors

Yinghong He¹, Meena Balasubramanian², Nigel Humphreys³, Catherine Waruiru³, Martin Brauner⁴, Juergen Kohlhase⁴, Ruth O'Reilly³, Cristina Has⁵

Affiliations

¹ Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany.
² Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.
³ Sheffield Children's NHS Foundation Trust, Sheffield, UK.
⁴ Private Practice for Human Genetics, Freiburg, Germany.
⁵ Department of Dermatology, Medical Center-University of Freiburg, Freiburg, Germany. Electronic address: cristina.has@uniklinik-freiburg.de.

PMID: 26854491
DOI: 10.1016/j.jid.2015.11.031

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't
Review

MeSH terms

DNA Mutational Analysis
Epidermolysis Bullosa / genetics*
Epidermolysis Bullosa / physiopathology
Genetic Predisposition to Disease*
Humans
Infant
Integrin alpha3 / genetics*
Lung Diseases, Interstitial / genetics*
Lung Diseases, Interstitial / physiopathology
Male
Mutation / genetics*
Nephrotic Syndrome / genetics*
Nephrotic Syndrome / physiopathology
Polymorphism, Single Nucleotide
RNA Splicing / genetics

Substances

ITGA3 protein, human
Integrin alpha3