Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

Ouragini, Houyem; Cherif, F.; Kassar, Selma; Floriddia, Giovanna; Pascucci, Monica; Daoud, W.; Osman-Dhahri, Amel Ben; Boubaker, Samir; Castiglia, Daniele; Abdelhak, Sonia

doi:10.1016/j.jdermsci.2009.01.006

Cited by 10 publications

(12 citation statements)

References 19 publications

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“…Indeed, in the case of dominantly inherited disorders, the morbid phenotype is expressed as a cause of one copy of the deleterious mutation; thus, two related parents do not have a greater probability of having an affected child than an unrelated couple. Moreover, in humans, homozygosity for dominant alleles is rare (Zlotogora 1997a) because of the effect of natural selection which tends to eliminate dominant mutations in the homozygous as well as in the heterozygous state especially that this homozygosity is often associated with a more severe phenotype of the disease (Ouragini et al 2009). Therefore, dominant disorders are often caused by de novo mutations.…”

Section: Resultsmentioning

confidence: 99%

Consanguinity, endogamy, and genetic disorders in Tunisia

et al. 2012

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Section: Resultsmentioning

confidence: 99%

Consanguinity, endogamy, and genetic disorders in Tunisia

et al. 2012

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“…[18][19][20] TS was observed in five patients. From the clinical features we classified: one case of junctional type in a 1-month-old old girl; one case of The most challenging differential diagnosis we encountered was with autoimmune blistering diseases such as IgA linear disease, which is a relatively frequent condition in Ethiopian children.…”

Section: Resultsmentioning

confidence: 99%

“…Epidermolysis bullosa has been noted in Africans previously. [18][19][20] TS was observed in five patients. This is a rare genetic multisystem disorder, belonging to the neurocutaneous syndromes (phacomatoses).…”

Section: Resultsmentioning

confidence: 99%

The spectrum of genodermatoses and congenital cutaneous conditions in northern Ethiopia

Dassoni¹,

Morrone

Padovese³

2014

Int J Dermatology

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Reports of congenital diseases in Africa are scanty, probably because of their rarity, the lack of knowledge among health workers, and the difficult political and social situation in different African countries. We describe here the spectrum of genetic and rare congenital cutaneous conditions encountered at the Italian Dermatological Center of Ayder referral hospital of Mekele, Ethiopia, over a 3-year period. All patients attending the Italian Dermatological Center were registered in a database, and medical records of genetic and congenital disorders diagnosed from January 2008 to December 2010 were retrospectively analyzed. Over the total, 24 different genetic and congenital disorders affecting 122 individuals (0.4% of the total case load) were observed. In our case series, we did not report any patient affected by albinism, in contrast with literature from other African countries. To our knowledge, this is the first report from northern Ethiopia. A brief update on the commonest disorders is included.

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“…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%

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

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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.

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Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

Cited by 10 publications

References 19 publications

Consanguinity, endogamy, and genetic disorders in Tunisia

Consanguinity, endogamy, and genetic disorders in Tunisia

The spectrum of genodermatoses and congenital cutaneous conditions in northern Ethiopia

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

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