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Featured researches published by Selma Kassar.


Archives of Dermatology | 2009

Clinical and Mutational Heterogeneity of Darier Disease in Tunisian Families

Mbarka Bchetnia; Cherine Charfeddine; Selma Kassar; Hela Zribi; Haifa Tounsi Guettiti; Feten Ellouze; Mejda Cheour; Samir Boubaker; Amel Dhahri-Ben Osman; Sonia Abdelhak; M. Mokni

OBJECTIVE To study the mutation spectrum and phenotype-genotype correlation of Darier disease (DD) in Tunisian patients. DESIGN Case series. SETTING Referral center: Department of Dermatology (La Rabta Hospital), Tunis, Tunisia. PATIENTS Eight large Tunisian families with DD, with a total of 23 patients and 9 unaffected family members. MAIN OUTCOME MEASURE Patients were investigated at the clinical, histological, and genetic levels. Families were genotyped with 5 microsatellite markers spanning the ATP2A2 gene. Mutation screening was performed by direct sequencing of the coding region and exon/intron boundaries of the ATP2A2 gene. RESULTS Typical clinical features of DD were constantly present. Phenotypic variation within and between the studied families was observed. Different neuropsychiatric disorders were seen in 5 families, and various cutaneous and extracutaneous original clinical associations were observed. The haplotype analysis led to the identification of different haplotypes cosegregating with the disease in the studied families. Mutation screening of the ATP2A2 gene revealed 3 recurrent mutations (119-120delAG, R677X, and D702N) and 4 novel variations: 2 missense mutations (G217A and L900R), one microinsertion (2772-2779 ins C), and one microdeletion (1747-1749 del 2T). CONCLUSIONS Our findings provide evidence for clinical and mutational heterogeneity of Tunisian families with DD. No obvious phenotype-genotype correlation was established. To our knowledge, this is the first molecular investigation of DD in the North African population.


Journal of Cutaneous Pathology | 2008

Immunohistological study of involucrin expression in Darier's disease skin

Selma Kassar; Cherine Charfeddine; Hela Zribi; Haifa Tounsi-Kettiti; Mbarka Bchetnia; E. Jerbi; Doris Cassio; M. Mokni; Sonia Abdelhak; Amel Ben Osman; Samir Boubaker

Background:  Darier’s disease (DD) is an autosomal dominant skin disorder characterized by acantholysis and abnormal keratinization. The gene responsible for DD, ATP2A2 encodes for the sarco/endoplasmic reticulum (ER) Ca2+‐ATPase isoform 2 protein. Involucrin, considered as a marker of terminal epidermal differentiation, could be altered in some keratinization disorders including DD.


Journal of Medical Case Reports | 2010

Coexistence of mal de Meleda and congenital cataract in a consanguineous Tunisian family: two case reports

Mbarka Bchetnia; Ahlem Merdassi; Cherine Charfeddine; Fatma Mgaieth; Selma Kassar; Farah Ouechtati; Ibtissem Chouchene; Hamouda Boussen; M. Mokni; Amel Dhahri-Ben Osman; Med Samir Boubaker; Sonia Abdelhak; Leila Elmatri

IntroductionMal de Meleda is a rare form of palmoplantar keratoderma, with autosomal recessive transmission. It is characterized by diffuse erythema and hyperkeratosis of the palms and soles. Recently, mutations in the ARS (component B) gene (ARS, MIM: 606119) on chromosome 8q24.3 have been identified in families with this disorder. Congenital cataract is a visual disease that may interfere with sharp imaging of the retina. Mutations in the heat-shock transcription factor 4 gene (HSF4; MIM: 602438) may result in both autosomal dominant and autosomal recessive congenital cataracts.Case presentationA Tunisian family with two female siblings aged 45 and 30 years, presented with a clinical association of mal de Meleda and congenital cataract. The two patients exhibited diffuse palmoplantar keratodermas. One of them presented with a total posterior subcapsular cataract and had a best corrected visual acuity at 1/20 in the left eye and with the right eye was only able to count fingers at a distance of one foot. The other woman had a slight posterior subcapsular lenticular opacity and her best corrected visual acuity was 8/10 in the right eye and with her left eye she was only able to count fingers at a distance of one foot. A mutational analysis of their ARS gene revealed the presence of the homozygous missense mutation C99Y and two single nucleotide polymorphisms (-55G>C and -60G>C). The splice mutation (c.1327+4A-G) within intron 12 of the HSF4 gene, which has been previously described in Tunisian families with congenital cataract, was not found in the two probands within this family.ConclusionTo the best of our knowledge, such original clinical association has not been reported previously. The association of these two autosomal recessive diseases might have occurred in this family due to a high degree of inbreeding. The C99Y mutation may be specific to the Tunisian population as it has been exclusively reported so far in only three Tunisian families with mal de Meleda.


Journal of Human Genetics | 2006

Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region

Cherine Charfeddine; M. Mokni; Selma Kassar; Hela Zribi; Chiraz Bouchlaka; Samir Boubaker; Ahmed Rebai; Amel Ben Osman; Sonia Abdelhak

AbstractTransgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and feet. The disease is distributed worldwide and includes the Mediterranean population. The gene responsible for MDM, ARS (component B) mapped on chromosome 8qter, encodes for the SLURP-1 protein (Ly-6/uPAR related protein-1). A variety of mutations within the ARS gene have been shown to underlie MDM in different populations. Genetic heterogeneity of MDM is suspected. We have recently shown that three different homozygous mutations (82delT, C77R, C99Y) were responsible for MDM in 17 patients from Northern Tunisia belonging to eight unrelated consanguineous families. We report here a Tunisian family with three siblings presenting with recessive transgressive PPK closely resembling the MDM phenotype that excludes linkage to the ARS gene.


Journal of Dermatological Science | 2009

Dystrophic epidermolysis bullosa phenotypes in a large consanguineous Tunisian family

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

BACKGROUND Dystrophic epidermolysis bullosa (DEB) is a clinically heterogeneous blistering disorder of the skin and mucous membranes. DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. On the basis of the mode of inheritance and the clinical manifestations, DEB is classified into two major subtypes: one dominant (DDEB) and one recessive (RDEB). OBJECTIVE We report, here, clinical, histological and genetic investigation of a large Tunisian family presenting with a wide range of clinical manifestations of DEB and a pedigree suggestive for a pseudodominant pattern of inheritance of a recessive mutation. METHODS Indirect immunofluorescence (IF) with the antibody LH7:2 against collagen VII and electron microscopy (EM) analyses were performed. The members of the family were genotyped with five markers flanking COL7A1, and screening for the deleterious mutation by DHPLC and direct sequencing. RESULTS The family presented four pretibial DEB patients and one generalized RDEB. Molecular investigation showed that all family members, unaffected and affected by the pretibial form, were heterozygous for the c.7178delT mutation, except for the member with the generalized form who was homozygous. IF showed that heterozygous individuals, independently of their clinical status, have a slightly reduced staining, and the homozygous individual with generalized DEB has markedly reduced staining at the dermal-epidermal junction. CONCLUSION These results are suggestive for an autosomal semidominant model of inheritance with incomplete penetrance and variable expression for the identified mutation. No genotype phenotype correlation was observed suggesting the existence of other genetic determinants influencing dermo-epidermal junction cohesion.


Journal of Dermatological Science | 2009

Clinical, histological and genetic investigation of Buschke-Fischer-Brauer's disease in Tunisian families.

Mbarka Bchetnia; Cherine Charfeddine; Selma Kassar; Imen Hanchi; Haïfa Tounsi-Guettiti; Ahmed Rebai; Amel Dhahri-Ben Osman; Christian Kubisch; Sonia Abdelhak; Samir Boubaker; M. Mokni

[1] Villavicencio EH, Walterhouse DO, Iannaccone PM. The sonic hedgehogpatched-gli pathway in human development and disease. Am J Hum Genet 2000;67:1047–54. [2] Ghali L, Wong ST, Green J, Tidman N, Quinn AG. Gli1 protein is expressed in basal cell carcinomas, outer root sheath keratinocytes and a subpopulation of mesenchymal cells in normal human skin. J Invest Dermatol 1999;113:595–9. [3] Green J, Leigh IM, Poulsom R, Quinn AG. Basal cell carcinoma development is associated with induction of the expression of the transcription factor Gli-1. Br J Dermatol 1998;139:911–5. [4] Hatta N, Hirano T, Kimura T, Hashimoto K, Mehregan DR, Ansai S, et al. Molecular diagnosis of basal cell carcinoma and other basaloid cell neoplasms of the skin by the quantification of Gli1 transcript levels. J Cutan Pathol 2005;32:131–6. [5] Goto T, Kino T, Hatanaka H, Nishiyama M, Okuhara M, Kohsaka M, et al. Discovery of FK-506, a novel immunosuppressant isolated from Streptomyces tsukubaensis. Transplant Proc 1987;19:4–8. [6] Kim A, DiCarlo J, Cohen C, McCall C, Johnson D, McAlpine B, et al. Are keloids really ‘‘gli-loids’’?: High-level expression of gli-1 oncogene in keloids. J Am Acad Dermatol 2001;45:707–11.


Archives of Dermatological Research | 2008

Haplotypic classification of dystrophic epidermolysis bullosa in Tunisian consanguineous families: implication for diagnosis

Houyem Ouragini; F. Cherif; Wafa Daoud; Selma Kassar; Cherine Charfeddine; Ahmed Rebai; Samir Boubaker; Amel Ben Osman-Dhahri; Sonia Abdelhak

Dystrophic epidermolysis bullosa (DEB) is a rare genodermatosis caused by mutations in the type VII collagen gene COL7A1. Clinical diagnosis of DEB should be confirmed by histopathological and electron microscopy analysis, which is not always accessible. We report here a genetic investigation of DEB consanguineous families in Tunisia. A total of 23 EB families were genotyped with 5 microsatellite markers overlapping the COL7A1 gene. Among these families, 19 presented with the dystrophic form of EB, 9 were diagnosed by histopathological examination, 2 had the simplex form, 1 had a junctional EB, and 1 was affected by an unclassified form of EB. The informativeness of the markers was studied and allowed us to select three markers for genetic testing of DEB in Tunisian families at risk. Haplotype analysis and homozygosity by descent suggest that all families classified clinically as having DEB and the patient who presented with an unclassified form of EB are likely linked to the COL7A1 gene, and showed evidence for exclusion for the simplex and junctional cases. For COL7A1 linked families, two main haplotypes were shared by eight families. For all the other cases, haplotypic heterogeneity was observed, thus suggesting a mutational heterogeneity among Tunisian DEB families. The genetic results matched with the ultrastructural analysis in all the DEB families and with the clinical examination in 94.7% of all studied DEB families. This study is to our knowledge the first genetic investigation of DEB in the Maghrebian population. We propose a selection of informative markers and show the importance of haplotype analysis as a relatively easy and cost and time effective method for carrier screening and prenatal diagnosis of DEB in consanguineous families at risk.


Journal of The European Academy of Dermatology and Venereology | 2009

Histological characterization of Darier's disease in Tunisian families

Selma Kassar; H. Tounsi-Kettiti; Cherine Charfeddine; H. Zribi; Mbarka Bchetnia; E. Jerbi; M. Mokni; A. Ben Osman; Sonia Abdelhak; Samir Boubaker

Background  Dariers disease (OMIM 124200) is an autosomal‐dominant skin disorder characterized by warty papules and plaques in seborreheic areas, palmo‐plantar pits and distinctive nail abnormalities. The disease has complete penetrance in adults and variable expressivity. It is caused by mutations in the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca2+ ATPase type 2 isoform (SERCA2).


Molecular Genetics and Metabolism | 2006

Clinical and mutational investigations of tyrosinemia type II in Northern Tunisia: identification and structural characterization of two novel TAT mutations.

Cherine Charfeddine; K. Monastiri; M. Mokni; A. Laadjimi; Naziha Kaabachi; O. Perin; M. Nilges; Selma Kassar; M. Keirallah; M.N. Guediche; Mohamed Ridha Kamoun; Neji Tebib; M.F. Ben Dridi; Samir Boubaker; A. Ben Osman; Sonia Abdelhak


Journal of Dermatological Science | 2010

Mutational survey of recessive dystrophic epidermolysis bullosa in Tunisian families unveils a spectrum of private, ethnic specific and world wide recurrent mutations

Houyem Ouragini; F. Cherif; Sabrine Ahlem Ben Brick; Sonia Nouira; Giovanna Floriddia; Monica Pascucci; Rym Kefi; Wafa Daoud; N. Mahdhaoui; Selma Kassar; Ridha Mrad; Mohammed Ridha Kamoun; Amel Ben Osman-Dhahri; M. Denguezli; K. Monastiri; H. Seboui; M. Mokni; Samir Boubaker; Daniele Castiglia; Sonia Abdelhak

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M. Mokni

Tunis El Manar University

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