Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

Cunningham, Louise; Liu, L; Menzies, Stephanie; McGrath, John A.; Lally, Aoife

doi:10.1111/jdv.13385

Cited by 6 publications

(7 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Although various types of mutations were identified, including PTC, in‐frame and missense mutations, missense mutations comprised half of the mutations, and the combination of PTC/PTC mutations was not found. PTC mutations have been reported in four cases of recessive DEB, pretibial, all of which were compound heterozygotes with a missense mutation . However, our present case was compound heterozygosity with a PTC mutation and an in‐frame mutation, and such a case has not been previously reported in recessive DEB, pretibial.…”

Section: Discussioncontrasting

confidence: 64%

“…The previously reported COL7A1 mutations in DEB, pretibial, are summarized in Figure . Both recessive and dominant inheritance patterns have been observed in DEB, pretibial; one‐third of the reported cases showed a recessive inheritance pattern while two‐thirds showed a dominant inheritance pattern.…”

Section: Discussionmentioning

confidence: 95%

“…The previously reported COL7A1 mutations in DEB, pretibial, are summarized in Figure 2. [2][3][4][5][7][8][9][10][11][12][13][14][15] Both recessive and dominant inheritance patterns have been observed in DEB, pretibial; onethird of the reported cases showed a recessive inheritance pattern while two-thirds showed a dominant inheritance pattern. While c.3840delC mutation, previously identified in both Hallopeau-Siemens type and non-Hallopeau-Siemens type DEB, was found in only two cases of DEB, pretibial, the COL7A1 mutations was highly diverse in DEB, pretibial, as with other DEB subtypes.…”

Section: Discussionmentioning

confidence: 99%

See 2 more Smart Citations

Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

Masunaga

Kubo

Ishiko

2018

The Journal of Dermatology

View full text Add to dashboard Cite

Dystrophic epidermolysis bullosa (DEB), pretibial, a rare subtype of epidermolysis bullosa (EB), is characterized by recurrent blisters and erosions predominantly on the pretibial region. We report the case of a 60-year-old Japanese woman with persistent blistering eruptions and scar formation on the pretibial region and elbows. Mutational analysis revealed a previously reported c.5797C>T mutation in exon 70 (p.R1933X) and a novel c.6348+1G>A mutation in intron 76 of COL7A1. Reverse transcription polymerase chain reaction revealed that the c.6348+1G>A mutation resulted in the skipping of exon 76 (69 bp) and the retention of intron 76 (75 bp), and both transcripts were in-frame. From these results, we diagnosed the patient as having recessive DEB, pretibial. A review of previously reported mutations in DEB, pretibial, revealed that one-third of DEB, pretibial, cases showed a recessive inheritance pattern, and no case had a combination of premature termination codon (PTC)/PTC mutations. The DEB, pretibial, case described herein is the first reported case of a compound heterozygote with PTC/in-frame mutations. Although no special characteristic features of the mutations were identified, a high diversity of COL7A1 mutations was shown even in DEB, pretibial.

show abstract

Section: Discussioncontrasting

confidence: 64%

Section: Discussionmentioning

confidence: 95%

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

Masunaga

Kubo

Ishiko

2018

The Journal of Dermatology

View full text Add to dashboard Cite

show abstract

“…This is associated with absent or dystrophic toenails. 6 EBP onset is typically earlier than pretibial EB and the degree of pruritus more marked hence this was felt to be the most likely diagnosis in our patient.…”

Section: Discussionmentioning

confidence: 80%

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa

et al. 2018

View full text Add to dashboard Cite

Epidermolysis bullosa pruriginosa (EBP) is a rare subtype of EB which is characterized by intense pruritus with blistering and nodular or lichenoid lesions most prominent on the lower extremities. It is caused by variants in COL7A1 which encodes for type VII collagen. There is wide phenotypic and genotypic variability between affected individuals. We report 2 potentially pathogenic variants in COL7A1 occurring on the same allele in a family with EBP and autosomal dominant inheritance. Late-onset EBP and incomplete penetrance may lead to delayed presentation in affected family members with the same variants. The broad phenotypic variability seen in EBP suggests that further genotypic and environmental factors may influence presentation. Genetic and histopathological diagnosis is essential, given the considerable overlap with clinically similar presentations such as hypertrophic lichen planus.

show abstract

“…While evidence suggests that the Affordable Care Act may increase overall reimbursement for low-income cases, such as those covered by Medicaid or the uninsured [3], the growth in visits has consequences beyond the financial. Hospitals are challenged to serve an increasing number of patients under limited resources and rising costs, making it a priority to use resources effectively when caring for patients.…”

Section: Introductionmentioning

confidence: 99%

A Queue-Based Monte Carlo Analysis to Support Decision Making for Implementation of an Emergency Department Fast Track

Fitzgerald

Pelletier

Reznek

2017

Journal of Healthcare Engineering

View full text Add to dashboard Cite

Emergency departments (EDs) are seeking ways to utilize existing resources more efficiently as they face rising numbers of patient visits. This study explored the impact on patient wait times and nursing resource demand from the addition of a fast track, or separate unit for low-acuity patients, in the ED using a queue-based Monte Carlo simulation in MATLAB. The model integrated principles of queueing theory and expanded the discrete event simulation to account for time-based arrival rates. Additionally, the ED occupancy and nursing resource demand were modeled and analyzed using the Emergency Severity Index (ESI) levels of patients, rather than the number of beds in the department. Simulation results indicated that the addition of a separate fast track with an additional nurse reduced overall median wait times by 35.8 ± 2.2 percent and reduced average nursing resource demand in the main ED during hours of operation. This novel modeling approach may be easily disseminated and informs hospital decision-makers of the impact of implementing a fast track or similar system on both patient wait times and acuity-based nursing resource demand.

show abstract

Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

Cited by 6 publications

References 9 publications

Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

Splice site mutation in COL7A1 resulting in aberrant in‐frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa

A Queue-Based Monte Carlo Analysis to Support Decision Making for Implementation of an Emergency Department Fast Track

Contact Info

Product

Resources

About