Mutations in <i>EXPH5</i>
 underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex

Rashidghamat, Ellie; Ozoemena, Linda; Liu, Lin; McGrath, John A.; Martinez, AE; Mellerio, Jemima E.

doi:10.1111/bjd.14047

Cited by 8 publications

(14 citation statements)

References 7 publications

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“…The disease is usually inherited as an autosomal dominant trait. By contrast, as in this and previous reports, EBS associated with mutations in EXPH5 shows recessive inheritance as well as very mild mechanical skin fragility, along with histopathological findings similar to those reported for other forms of basal EBS (Table ).…”

Section: Reportsupporting

confidence: 78%

“…To date, five genes have been implicated as being responsible for the diverse subtypes of basal EBS, including EXPH5 , in which a novel deletion was identified in the present study. Three points support the pathogenicity of this mutation: (i) it cosegregated with the disease phenotype in the family; (ii) it was not found in a large group of healthy controls, suggesting that it does not represent a neutral polymorphism; and (iii) it was predicted to lead to loss of protein expression, as with all the other EXPH5 mutations reported to date as causing EBS …”

Section: Reportmentioning

confidence: 75%

“…1 Recently, mutations in a fifth gene, EXPH5 (encoding exophilin-5, also known as Slac2-b) were shown to cause a recessive form of basal EBS. [2][3][4][5] In the present study, we further expand the spectrum of EBS-causing mutations in this gene by reporting our study of a young child affected by mild skin fragility.…”

mentioning

confidence: 90%

“…Most cases of basal EBS are attributable to mutations in the KRT5 and KRT14 genes encoding keratins 5 and 14, while a minority of those cases is due to mutations in the PLEC and DST genes encoding plectin and dystonin, respectively . Recently, mutations in a fifth gene, EXPH5 (encoding exophilin‐5, also known as Slac2‐b) were shown to cause a recessive form of basal EBS …”

mentioning

confidence: 99%

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A novel homozygous deletion inEXPH5causes a skin fragility phenotype

et al. 2016

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Summary Epidermolysis bullosa simplex (EBS) is the most common form of EB. Eight different genes have been implicated in the pathogenesis of different types of EBS, but a substantial portion of the cases cannot be attributed to mutations in known genes. Recently, recessive mutations in the gene EXPH5 (encoding exophilin‐5, also known as Slac2‐b) were identified in patients affected with a mild form of EBS. We used immunohistochemistry, Sanger sequencing and PCR–restriction fragment length polymorphism analysis to identify the cause of mild congenital skin fragility in a 3‐year‐old girl. No mutations were detected in KRT5 or KRT14, but we identified a novel homozygous deletion in EXPH5, which was found to cosegregate with the disease phenotype in the family. Our results further expand the spectrum of mutations in EXPH5. Appraisal of the present case against previously reported patients indicate that EXPH5 mutations result in a distinctive skin fragility phenotype, with minimal blistering compared with other forms of basal EBS.

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Section: Reportsupporting

confidence: 78%

Section: Reportmentioning

confidence: 75%

mentioning

confidence: 90%

mentioning

confidence: 99%

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A novel homozygous deletion inEXPH5causes a skin fragility phenotype

et al. 2016

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“…EXPH5 mutations leading to premature termination codons and absence of Slac2b seem to represent are a rare cause of EB simplex. Clinical manifestations are usually mild, and skin fragility improves with age (Figure B,C). Remarkable mottled pigmentation was reported in a single case …”

Section: New Eb Clinical Phenotypesmentioning

confidence: 99%

Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes

Has

Fischer

2018

Experimental Dermatology

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Inherited epidermolysis bullosa (EB) is a group of heterogeneous genetic disorders characterized by skin fragility. EB comprises a large spectrum of phenotypes, ranging from severe cutaneous and extracutaneous involvement caused by lack of key adhesion proteins, to mild cutaneous fragility caused by subtle molecular defects. Disease-causing variants in 20 different genes account for the genetic and allelic heterogeneity of EB. Here, we discuss the development of laboratory methods that enabled these discoveries and the clinical and molecular features of some new EB entities elucidated during the past 5-6 years.

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