Identification of Two Homozygous Sequence Variants in theCOL7A1Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family

2015 ◽  
Vol 79 (5) ◽  
pp. 350-356 ◽  
Author(s):  
Rehab Serafi ◽  
Musharraf Jelani ◽  
Mona M. Almramhi ◽  
Hussein S.A. Mohamoud ◽  
Saleem Ahmed ◽  
...  
Keyword(s):  
Epidermolysis Bullosa ◽  
Sequence Variants ◽  
Consanguineous Family ◽  
Dystrophic Epidermolysis Bullosa ◽  
Whole Exome ◽  
Exome Analysis

scholarly journals Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 900 ◽  
Author(s):  
Shamsudheen Karuthedath Vellarikkal ◽  
Rijith Jayarajan ◽  
Ankit Verma ◽  
Sreelata Nair ◽  
Rowmika Ravi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
Sporadic Case ◽  
The Body ◽  
Epidermolysis Bullosa Simplex ◽  
Dominant Form ◽  
Dystrophic Epidermolysis Bullosa ◽  
Frameshift Deletion ◽  
Whole Exome

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES). Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

scholarly journals Identification of multi-exon deletion in the COL7A1 gene underlying dystrophic epidermolysis bullosa by whole-exome sequencing

2021 ◽  
Vol 12 (4) ◽  
pp. 412-416
Author(s):  
Mahdieh Taghizadeh ◽  
Sima Mansoori Derakhshan ◽  
Mahmoud Shekari Khaniani
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
Diagnostic Yield ◽  
Missense Variant ◽  
Entire Body ◽  
Dystrophic Epidermolysis Bullosa ◽  
Whole Exome ◽  
Number Variation ◽  
Col7a1 Gene

Dystrophic epidermolysis bullosa (DEB) is a rare form of genodermatosis characterized by skin blisters, milia, scarring over the entire body, and nail dystrophy. In this study, a pedigree with one affected member with skin blisters, and a clinical diagnosis of epidermolysis bullosa who was a result of a non-consanguineous marriage, was investigated by whole-exome sequencing (WES). This survey revealed that the proband is a compound heterozygote for a previously reported heterozygous missense variant (c.6205C>T) and a heterozygous deletion of exons 13–24 in the COL7A1 gene. This study indicates that the use of WES along with copy number variation (CNV) analysis gives a higher diagnostic yield for such patients. Moreover, considering the autosomal recessive and dominant forms of the disease, both caused by variants in one gene, proper interpretation and classification of novel variants in heterozygous as well as homozygous states is always a major challenge.

scholarly journals Case Report: Whole exome sequencing reveals a novel frameshift deletion mutation p.G2254fs in COL7A1 associated with autosomal recessive dystrophic epidermolysis bullosa

F1000Research ◽  
2016 ◽  
Vol 5 ◽  
pp. 900 ◽  
Author(s):  
Shamsudheen Karuthedath Vellarikkal ◽  
Rijith Jayarajan ◽  
Ankit Verma ◽  
Sreelata Nair ◽  
Rowmika Ravi ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Epidermolysis Bullosa ◽  
Sporadic Case ◽  
The Body ◽  
Epidermolysis Bullosa Simplex ◽  
Dominant Form ◽  
Dystrophic Epidermolysis Bullosa ◽  
Frameshift Deletion ◽  
Whole Exome

Dystrophic epidermolysis bullosa simplex (DEB) is a phenotypically diverse inherited skin fragility disorder. It is majorly manifested by appearance of epidermal bullae upon friction caused either by physical or environmental trauma. The phenotypic manifestations also include appearance of milia, scarring all over the body and nail dystrophy. DEB can be inherited in a recessive or dominant form and the recessive form of DEB (RDEB) is more severe. In the present study, we identify a novel p.G2254fs mutation in COL7A1 gene causing a sporadic case of RDEB by whole exome sequencing (WES). Apart from adding a novel frameshift Collagen VII mutation to the repertoire of known mutations reported in the disease, to the best of our knowledge, this is the first report of a genetically characterized case of DEB from India.

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