Utility of whole-exome sequencing in detecting novel compound heterozygous mutations in COL7A1 among families with severe recessive dystrophic epidermolysis bullosa in India—implications for diagnosis, prognosis, and prenatal testing

Journal of the American Academy of Dermatology ◽

10.1016/j.jaad.2018.05.1223 ◽

2018 ◽

Vol 79 (3) ◽

pp. AB310

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Prenatal Testing ◽

Compound Heterozygous ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Compound Heterozygous Mutations

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Utility of whole-exome sequencing in detecting novel compound heterozygous mutations inCOL7A1among families with severe recessive dystrophic epidermolysis bullosa in India - implications on diagnosis, prognosis and prenatal testing

Journal of the European Academy of Dermatology and Venereology ◽

10.1111/jdv.14909 ◽

2018 ◽

Vol 32 (12) ◽

pp. e433-e435 ◽

Author(s):

R. Mahajan ◽

S.K. Vellarikkal ◽

S. Handa ◽

A. Verma ◽

R. Jayarajan ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Prenatal Testing ◽

Compound Heterozygous ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

Compound Heterozygous Mutations

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Whole-exome sequencing in a consanguineous Pakistani family identifies a mutational hotspot in the COL7A1 gene, causing recessive dystrophic epidermolysis bullosa

Clinical Dysmorphology ◽

10.1097/mcd.0000000000000299 ◽

2020 ◽

Vol 29 (2) ◽

pp. 86-89

Author(s):

Atta Ur Rehman ◽

Virginie G. Peter ◽

Mathieu Quinodoz ◽

Muhammad Dawood ◽

Carlo Rivolta

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Pakistani Family ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

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Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole‐exome sequencing

Molecular Genetics & Genomic Medicine ◽

10.1002/mgg3.1748 ◽

2021 ◽

Author(s):

Thi Huyen Thuong Ma ◽

Thi Lan Anh Luong ◽

Thu Lan Hoang ◽

Thi Thanh Hoa Nguyen ◽

Thi Ha Vu ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Epidermolysis Bullosa ◽

Dystrophic Epidermolysis Bullosa ◽

Whole Exome ◽

Recessive Dystrophic Epidermolysis Bullosa ◽

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Novel compound heterozygous mutations identified by whole exome sequencing in a Japanese patient with geroderma osteodysplastica

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2017.08.002 ◽

2017 ◽

Vol 60 (12) ◽

pp. 635-638 ◽

Author(s):

Ryojun Takeda ◽

Masaki Takagi ◽

Hiroyuki Shinohara ◽

Hiroshi Futagawa ◽

Satoshi Narumi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Japanese Patient ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy

European Journal of Medical Genetics ◽

10.1016/j.ejmg.2019.01.013 ◽

2020 ◽

Vol 63 (1) ◽

pp. 103623 ◽

Author(s):

Kun Li ◽

Runming Jin ◽

Xiaoyan Wu

Keyword(s):

Exome Sequencing ◽

Cerebellar Ataxia ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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WHOLE EXOME SEQUENCING IDENTIFIES RECESSIVE FORM OF FAMILIAL HYPOALPHALIPOPROTEINEMIA WITH COMPOUND HETEROZYGOUS MUTATIONS IN ATP-BINDING CASSETTE TRANSPORTER 1 GENE

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(15)61377-8 ◽

2015 ◽

Vol 65 (10) ◽

pp. A1377

Author(s):

Hayato Tada ◽

Atsushi Nohara ◽

Masa-aki Kawashiri ◽

Akihiro Inazu ◽

Hiroshi Mabuchi ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Atp Binding ◽

Compound Heterozygous ◽

Atp Binding Cassette Transporter ◽

Whole Exome ◽

Recessive Form ◽

Compound Heterozygous Mutations ◽

Atp Binding Cassette

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Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree

Clinica Chimica Acta ◽

10.1016/j.cca.2016.06.038 ◽

2016 ◽

Vol 460 ◽

pp. 135-137 ◽

Author(s):

Zhihong Wang ◽

Yanhong Lin ◽

Dezhu Zheng ◽

Aizhen Yan ◽

Xiangdong Tu ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Metachromatic Leukodystrophy ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Whole exome sequencing combined with integrated variant annotation prediction identifies asymptomatic Tangier disease with compound heterozygous mutations in ABCA1 gene

Atherosclerosis ◽

10.1016/j.atherosclerosis.2015.04.003 ◽

2015 ◽

Vol 240 (2) ◽

pp. 324-329 ◽

Author(s):

Hayato Tada ◽

Masa-aki Kawashiri ◽

Atsushi Nohara ◽

Reina Saito ◽

Yoshihiro Tanaka ◽

...

Keyword(s):

Exome Sequencing ◽

Whole Exome Sequencing ◽

Compound Heterozygous ◽

Tangier Disease ◽

Variant Annotation ◽

Whole Exome ◽

Compound Heterozygous Mutations

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Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing

Journal of Translational Medicine ◽

10.1186/1479-5876-11-284 ◽

2013 ◽

Vol 11 (1) ◽

pp. 284 ◽

Author(s):

Xue Gao ◽

Qing-yan Zhu ◽

Yue-Shuai Song ◽

Guo-Jian Wang ◽

Yong-Yi Yuan ◽

...

Keyword(s):

Hearing Loss ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Autosomal Recessive ◽

Compound Heterozygous ◽

Whole Exome ◽

Compound Heterozygous Mutations

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

F1000Research ◽

10.12688/f1000research.8380.2 ◽

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 ◽

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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