Splicing abnormality of integrin β4 gene (ITGB4) due to nucleotide substitutions far from splice site underlies pyloric atresia-junctional epidermolysis bullosa syndrome

Highlights • We disclosed two novel ITGB4 mutations in non-lethal PA-JEB patient. • The mutations were c.264+2TtoA and c.1762−25TtoA. • Maternal c.1762−25TtoA was a branch-point mutation. • Proband showed non-lethal phenotype regardless of both mutations leading PTC.

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Bibliographic Details
Published in:Journal of dermatological science 2015-04, Vol.78 (1), p.61-66
Main Authors: Masunaga, Takuji, Niizeki, Hironori, Yasuda, Fumiyo, Yoshida, Kenji, Amagai, Masayuki, Ishiko, Akira
Format: Article
Language:English
Subjects:
Adult
Biopsy
Blister
Branch-point mutation
Dermatology
DNA Mutational Analysis - methods
Ectodermal Dysplasia - diagnosis
Ectodermal Dysplasia - genetics
Fluorescent Antibody Technique
Genetic Association Studies
Genetic Markers
Genetic Predisposition to Disease
Genodermatosis
Humans
Integrin beta4 - analysis
Integrin beta4 - genetics
Male
Microscopy, Electron
Mutation
Phenotype
Reverse Transcriptase Polymerase Chain Reaction
RNA Splicing
RT-PCR
Skin - chemistry
Skin - ultrastructure
Splice site mutation
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Summary:Highlights • We disclosed two novel ITGB4 mutations in non-lethal PA-JEB patient. • The mutations were c.264+2TtoA and c.1762−25TtoA. • Maternal c.1762−25TtoA was a branch-point mutation. • Proband showed non-lethal phenotype regardless of both mutations leading PTC.
ISSN:0923-1811
1873-569X
DOI:10.1016/j.jdermsci.2015.01.016