Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

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RIAHI KOUROSH; GHANBARI MARDASI FARIDEH; TALEBI FARAH; Jasemi Farzad; MOHAMMADI ASL JAVAD

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Journal Paper

Paper Information

Journal: Cell Journal (Yakhteh) Year:2021 | Volume:23 | Issue:5 Page(s): 598-602

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Title

Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family

Author(s)

Keywords

ITGB4

Junctional Epidermolysis Bullosa Herlitz

LAMA3

LAMB3

Sequence Analysis

Abstract

In this study, we describe one Iranian patient who was diagnosed with Epidermolysis Bullosa (EB) because of mutations in three candidate genes, including 3 mutations. Two missense mutations in the LAMA3 (D3134H) and LAMB3 (Y339H) genes and also, a synonymous mutation in the ITGB4 (H422H) gene were identified that leads to the Junctional-EBHerlitz (JEB-Herlitz) clinical phenotype. The patient had a heterozygous LAMA3 mutation combined with a heterozygous mutation in LAMB3. Our results propose that these mutations produce novel protein-coding transcripts which explain the JEB-Herlitz phenotype in the patient. Interestingly, this is the first report indicating that a digenic inheritance in the LAMA3 and LAMB3 which is responsible for JEB-Herlitz. Also, this is the first digenic inheritance recognized in the JEB-Herlitz family. This study provides a new way to clarify the molecular mechanisms of LAMA3 and LAMB3 genes in JEB-Herlitz.

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APA: Copy

RIAHI, KOUROSH, GHANBARI MARDASI, FARIDEH, TALEBI, FARAH, Jasemi, Farzad, & MOHAMMADI ASL, JAVAD. (2021). Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family. CELL JOURNAL (YAKHTEH), 23(5), 598-602. SID. https://sid.ir/paper/682464/en

Vancouver: Copy

RIAHI KOUROSH, GHANBARI MARDASI FARIDEH, TALEBI FARAH, Jasemi Farzad, MOHAMMADI ASL JAVAD. Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family. CELL JOURNAL (YAKHTEH)[Internet]. 2021;23(5):598-602. Available from: https://sid.ir/paper/682464/en

IEEE: Copy

KOUROSH RIAHI, FARIDEH GHANBARI MARDASI, FARAH TALEBI, Farzad Jasemi, and JAVAD MOHAMMADI ASL, “Digenic Mutations in Junctional Epidermolysis Bullosa in An Iranian Family,” CELL JOURNAL (YAKHTEH), vol. 23, no. 5, pp. 598–602, 2021, [Online]. Available: https://sid.ir/paper/682464/en

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