Detection and characterization of low-level mosaicism among clinically unaffected parents of ‘sporadic’ epidermolysis bullosa simplex cases-Reference-Cited by-同舟云学术

Detection and characterization of low-level mosaicism among clinically unaffected parents of ‘sporadic’ epidermolysis bullosa simplex cases

Published:2022-09-01 Issue:3 Volume:187 Page:441-443
ISSN:1365-2133
Container-title:British Journal of Dermatology
language:en
Short-container-title:

Author:

Chen Fuying¹²,Deng Dan¹,Pan Chaolan¹²,Yao Zhirong¹²^ORCID,Gu Yan¹,Li Ming¹²^ORCID

Affiliation:

1. Department of Dermatology Xinhua Hospital

2. Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai China

Abstract

Abstract In this study, two (18.2%) clinically unaffected parents from 11 trios were identified with mosaic KRT14 variants.To our knowledge, this is the first report to study the proportion of low-level mosaicism in the clinically unaffected parents whose children were previously regarded as sporadic EBS cases.

Funder

Debra Shanghai

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.21059

Reference7 articles.

1. Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population;Chen;Clin Genet,2020

2. Cutaneous mosaicism: right before our eyes;Frank;J Clin Invest,2007

3. Mosaicism in cutaneous disorders;Lim;Annu Rev Genet,2017

4. Clinically-relevant postzygotic mosaicism in parents and children with developmental disorders in trio exome sequencing data;Wright;Nat Commun,2019

5. Somatic mosaicism in a male with an exon skipping mutation in PDHA1 of the pyruvate dehydrogenase complex results in a milder phenotype;Okajima;Mol Genet Metab,2006

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing;Journal of the European Academy of Dermatology and Venereology;2024-03-11

2. Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China;Journal of the European Academy of Dermatology and Venereology;2022-11-05