A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa

Lucky, Anne W.; Dagaonkar, Neha; Lammers, Karen M.; Husami, Ammar; Kissell, Diane; Zhang, Kejian

doi:10.1111/pde.13392

Cited by 31 publications

(28 citation statements)

References 67 publications

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“…Has et al elucidated 90% (36 of 40) of the studied cases by a NGS‐panel that included 49 genes . Finally, Lucky et al found an efficiency of 97.7% (42/43 patients) in an NGS assay that included 21 genes, in which all the identified mutations were present in only five genes ( KRT5 , KRT14 , LAMB3 , COL17A1 , COL7A1 ) . Therefore, our efficiency to detect the causative mutations was quite similar to that of other studies with larger panels.…”

Section: Discussionsupporting

confidence: 80%

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

et al. 2019

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Epidermolysis bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty‐seven patients (25 EBS, 4 JEB and 58 DEB) were studied. We performed a next‐generation sequencing‐based multigene panel through ion torrent technology including 11 genes: KRT5, KRT14, PLEC, TGM5, LAMA3, LAMB3, LAMC2, COL17A1, ITGB4, COL7A1, and FERMT1. A total of 72 different pathogenic or likely pathogenic variants were identified, 32 of them are novel. The causal variant was detected in 82 patients (efficiency of 94.3%). Pathogenic variants in the residue 125 of KRT14 were identified in 32% of all EBS patients. In DEB patients, four COL7A1 variants were quite frequent, some of them clustered in specific Brazilian regions. Our study extends the spectrum of known mutations in EB and describes, for the first time, the genetic profile of EB patients from Brazil.

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Section: Discussionsupporting

confidence: 80%

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

et al. 2019

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“…Epidermolysis bullosa (EB) is a genetically heterogeneous group of inherited diseases, and causative mutations of EB have been identified in more than 20 genes. 5 DEB, a heterogeneous group of EB, is caused by COL7A1 mutation. As a distinct subtype of DEB, DEB-Pr is characterized by pruritus and prurigo-like lesions.…”

Section: Discussionmentioning

confidence: 99%

Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris

Gong

Liu

et al. 2018

The Journal of Dermatology

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We report a 21‐year‐old man with recurrent bullous eruptions and severe itching on the lower legs and feet since 5 years of age. Dry, dirty brown, tile‐like scales covered his lower legs with dystrophic toenails. Nodular prurigo‐like lesions, scarring papules and milia remitted after the bullous eruptions. His father and another two family members had similar but mild presentations with recurrent bullae on the lower legs. Whole exome sequencing detected the heterozygous variants of COL7A1 c.6698G>A and FLG c.7249C>T in this pedigree. COL7A1 c.6698G>A was reported in bullous dermolysis of the newborn and FLG c.7249C>T was reported in ichthyosis vulgaris. Thus, the diagnosis of dystrophic epidermolysis bullosa pruriginosa associated with ichthyosis vulgaris was made.

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“…Dear Editor , Traditionally, the diagnosis of epidermolysis bullosa (EB) was made using electron microscopy (EM) and immunofluorescence mapping (IFM). Increasingly, genomics plays a role in EB diagnosis, and other genetic conditions, with a turn‐around time in as little as 1–3 weeks . The rapid turn‐around time and accuracy of genetic testing mandates a rethink on how we currently assess infants and children with EB.…”

Section: Patient Diagnosis Summary N (%)mentioning

confidence: 99%

A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa

et al. 2019

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A comprehensive next‐generation sequencing assay for the diagnosis of epidermolysis bullosa

Abstract: EBSEQ is a sensitive, relatively rapid, minimally invasive, comprehensive genetic assay for the diagnosis of epidermolysis bullosa.

Cited by 31 publications

References 67 publications

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease‐causing variants

Whole exome sequencing identified two point mutations of COL7A1 and FLG in a Chinese family with dystrophic epidermolysis bullous pruriginosa and ichthyosis vulgaris

A retrospective cohort study evaluating the accuracy of clinical diagnosis compared with immunofluorescence and electron microscopy in children with inherited epidermolysis bullosa

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