Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa

Yao, Yue; Yang, Kai; Qi, Keyan; Zeng, Linxi; Zhang, Guoqiang

doi:10.3892/etm.2022.11663

Cited by 3 publications

(3 citation statements)

References 36 publications

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“…Among the traditional diagnostic methods, electron microscopy and tissue immunofluorescence can enable the identification of specific types; however, the cost, invasiveness and tediousness of these methods limit their application ( 27 , 28 ). NGS, with its advantages of high-throughput, efficiency and accuracy, is gradually becoming the first-line technology for diagnosing inherited dermal disorders ( 5 , 6 , 9 , 16 ).…”

Section: Discussionmentioning

confidence: 99%

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Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma

Zhang,

Yao,

Tan

et al. 2024

Mol Med Rep

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Inherited ichthyosis comprises a series of heterogeneous dermal conditions; it mainly manifests as widespread hyperkeratosis, xerosis and scaling of the skin. At times, overlapping symptoms require differential diagnosis between ichthyosis and several other similar disorders. The present study reports seven patients with confirmed or suspected to be associated with ichthyosis by conducting a thorough clinical and genetic investigation. Genetic testing was conducted using whole-exome sequencing, with Sanger sequencing as the validation method. The MEGA7 program was used to analyze the conservation of amino acid residues affected by the detected missense variants. The enrolled patients exhibited ichthyosis-like but distinct clinical manifestations. Genetic analysis identified diagnostic variations in the FLG, STS, KRT10 and SERPINB7 genes and clarified the carrying status of each variant in the respective family members. The two residues affected by the detected missense variants remained conserved across multiple species. Of note, the two variants, namely STS : c.452C>T(p.P151L) and c.647_650del(p.L216fs) are novel. In conclusion, a clear genetic differential diagnosis was made for the enrolled ichthyosis-associated patients; the study findings also extended the mutation spectrum of ichthyosis and provided solid evidence for the counseling of the affected families.

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Section: Discussionmentioning

confidence: 99%

“…WES. WeS was used to detect the sequence variants in the probands' samples, as described in a previous study by our group (16). in brief, target-region sequence enrichment was performed using the agilent Sure Select Human exon Sequence capture Kit (agilent Technologies, inc.).…”

Section: Methodsmentioning

confidence: 99%

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma

Zhang,

Yao,

Tan

et al. 2024

Mol Med Rep

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“…In this scenario, molecular analysis has become an important tool for a more precise diagnosis of EB, especially given the recent consolidation and easier access to NGS techniques. 4 , 5 , 6 , 7 , 8 Here we compare the results of immunomapping and WES of a Brazilian cohort of 67 patients with EB.…”

Section: Introductionmentioning

confidence: 99%

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

Kelmann,

Stephan,

Barbosa

et al. 2024

Anais Brasileiros de Dermatologia

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Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with Epidermolysis bullosa

Stephan

Barbosa

Polastrin

et al. 2023

Preprint

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Background: Epidermolysis bullosa (EB) is characterized by skin fragility and blistering. In Brazil, the diagnosis is usually obtained through immunomapping, which involve skin biopsy procedures. Most recently, Whole Exome Sequencing (WES) has become an important tool for the diagnosis of the subtypes of EB, providing information on prognosis as well as allowing appropriate genetic counseling for the families. Objective: To compare the results of immunomapping and molecular analysis and to describe the characteristics of a Brazilian cohort of patients with EB. Methods: Patients were submitted to clinical evaluation and WES using peripheral blood samples. WES results were compared to those obtained from immunomapping testing by skin biopsy. Results: 67 patients from 60 families were classified: 47 patients with recessive dystrophic EB (DEB), 4 with dominant DEB, 15 with EB simplex (EBS) and 1 with junctional EB (JEB). Novel causative variants were: 10/60 (16%) in COL7A1associated with recessive DEB and 3 other variants in dominant DEB; one homozygous variant in KRT5 and another homozygous variant in PLEC, both associated with EBS. Immunomapping was available for 59 of the 67 patients and the result was concordant with exome results in 37 (62%), discordant in 13 (22%) and inconclusive in 9 patients (15%). Conclusion: Although immunomapping has been useful in services where molecular studies are not available, this invasive method may provide a misdiagnosis or an inconclusive result in more than 1/3 of the patients. This study shows that WES is an effective method to the diagnosis and genetic counseling of EB patients.

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Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa

Cited by 3 publications

References 36 publications

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma

Genetic analysis of seven patients with inherited ichthyosis and Nagashima‑type palmoplantar keratoderma

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with Epidermolysis bullosa

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