NDLI: A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

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Year: 2010 Volume: 12 Issue: 2

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A novel COL7A1 gene mutation in an Iranian individual suffering dystrophic epidermolysis bullosa.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Galehdari, Hamid Mohammadian, Gholamreza Azmoon, Somayeh Salehi, Bahaoddin Pedram, Mohammad
Spatial Coverage	Iran
Description	Country affiliation: Iran Author Affiliation: Galehdari H ( Shahid Chamran University, Faculty of Science, Department of Genetics, Golestan Ave., Ahwaz, Iran. galehdari187@yahoo.com)
Abstract	Dystrophic epidermolysis bullosa is a heritable skin disorder with dominant and recessive genetic patterns. Numerous studies underline that both forms are caused by mutations of the COL7A1 gene, which encodes collagen type VII. It has been reported that most mutations detected in the recessive disease form are nonsense mutations or small insertions or deletions leading to frameshift and premature translational termination, which tend to produce severe phenotypes. In contrast, missense mutations causing amino acid substitutions, which result in variable phenotypes, predominate in the dominant form of dystrophic epidermolysis bullosa. Genomic DNA from the patient and parents was subjected to PCR amplification of the coding region of the COL7A1 gene. Direct sequencing of the PCR products revealed a homozygous single-base deletion in the patient (c.6269-6270delC). The parents were heterozygous for the same mutation. This deletion is a novel mutation in the human COL7A1 gene based on comparisons with the Human Genome Mutation Database. To our knowledge, this is the first report of dystrophic epidermolysis bullosa in an Iranian patient confirmed by molecular diagnosis.
File Format	HTM / HTML
ISSN	15251578
e-ISSN	19437811
DOI	10.2353/jmoldx.2010.090145
Journal	The Journal of Molecular Diagnostics
Issue Number	3
Volume Number	12
Language	English
Publisher	Elsevier
Publisher Date	2010-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Molecular Biology Collagen Type Vii Genetics Epidermolysis Bullosa Dystrophica Diagnosis Mutation
Content Type	Text
Resource Type	Case study Article
Subject	Molecular Medicine Pathology and Forensic Medicine

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