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1. A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium

Author

Hamdi, Yosr, primary, Boujemaa, Maroua, additional, Ben Aissa-Haj, Jihenne, additional, Radouani, Fouzia, additional, Khyatti, Meriem, additional, Mighri, Najah, additional, Hannachi, Mariem, additional, Ghedira, Kais, additional, Souiai, Oussema, additional, Hkimi, Chaima, additional, Kammoun, Mohamed Selim, additional, Mejri, Nesrine, additional, Bouaziz, Hanen, additional, Beloufa, Mohamed Amine, additional, Charoute, Hicham, additional, Barakat, Abdelhamid, additional, Najjar, Imène, additional, Taniguchi, Hiroaki, additional, Pietrosemoli, Natalia, additional, benider, Abdellatif, additional, El-hamouchi, Adil, additional, Sonia, AIT YOUNES, additional, Kahla, Alia Ben, additional, Abdelmalik, AMIMER, additional, Zine, AMIR, additional, Jaballah, Amira, additional, Louiza, Amira, additional, GIHBID, Amina, additional, Achouak, BACHIR, additional, Djihad, BELABDI, additional, Said, BELHADEF, additional, Rafika, BELNOUI, additional, Ayed, Belarbi, additional, Nadia, Benchakroune, additional, Nadia, Benchakroun, additional, Meriem, BENINAL, additional, Radja, BENKALI, additional, Asma, BENSIHAMDI, additional, Hichem, BENYOUCEF, additional, Thouraya, BENDIMRED, additional, Nadir, Bensouf, additional, Rafika, BENNOUI, additional, Yosra, Berrazegua, additional, Latefa, Biskri, additional, Saida, BOUAOUNI, additional, Meriem, BOUANIKA, additional, Abderezzak, Bouamra, additional, Hanen, Bouaziz, additional, Zohra, Boudinar Fatma, additional, Sabrina, Bouhara, additional, Nadir, Boussouf, additional, Saber, Boutayeb, additional, Adda, BOUNEDJAR, additional, Omar, Chabati, additional, Cherine, Charfeddine, additional, Dalia, Chilla, additional, Mehemmai, Chiraz, additional, Bouabid, Cyrine, additional, Souad, Dahnane, additional, Soraya, DIAB, additional, Adlane, Dib Hocine, additional, Wider, Dorra, additional, Fawzi, DERRAR, additional, Amina, ELKEBOUB, additional, Hicham, EL ATTAR, additional, Elmostafa, EL FAHIME, additional, Djazia, ELHADEF, additional, Fehri, Emna, additional, Hakkou, Farid, additional, Hadjam, Farida, additional, Mamboisse, Fanny, additional, Widad, GAIS, additional, Merzak, GHARNAOUT, additional, Nidhal, Guessoum Amir, additional, Farida, HADJAM, additional, SAHRAOUI, HADJ, additional, Rachdi, Haifa, additional, Yaiche, Hamza, additional, Leila, HANNACHI, additional, Mahfouf, Hassan, additional, Bouguerra, Hend, additional, Attar, Hicham El, additional, Hassine, Hichem Ben, additional, Filali, Houda, additional, Harmak, Houda, additional, Kanaane, Houda, additional, Benamri, Ichrak, additional, Alami, Imane El, additional, Reda, KASSA, additional, Bendahhou, Karima, additional, Errafii, Khaoula, additional, Bairi, Khalid El, additional, Wafaa, Khaali, additional, Mehdi, KARKOURI, additional, Maria, Kabbage, additional, Wafa, Kammoun, additional, Houda, Kanaane, additional, Reda, Kassa, additional, Narimane, LAOUAR, additional, Biskri, Latefa, additional, Amira, Louiza, additional, Marie, Louise, additional, Chevalier, Charion, additional, Nabila, MALOUM, additional, Monot, Marc, additional, Saadi, Mariem, additional, Campone, Mario, additional, Mrad, Mehdi, additional, KARKOURI, MEHDI, additional, Mohamed, MELIZI, additional, Saadi, Meriem, additional, CHAHER, Meriem, additional, Ardhaoui, Monia, additional, TALEB, Mourad, additional, Jmiaa, Nadia Ben, additional, Benchakroun, Nadia, additional, Hadhri, Najet, additional, SALHI, Nawel, additional, Taoufiq, Nezha, additional, Jandoubi, Nouha, additional, Wahiba, OUAHIOUNE, additional, Salima, OULDSLIMANE, additional, BELNOUI, Rafika, additional, Louiza, Rahman Amira, additional, Benkhalifa, Rym, additional, Boutaib, Saber, additional, Boutayeb, Saber, additional, Menif, Samia, additional, OULDSLIMANE, Salima, additional, Valcke, Samuel, additional, Assia, SLIMANI, additional, Nasr, Sonia Ben, additional, Maatoug, Sonia, additional, Younes, Sonia Ait, additional, BENCHEHIDA, Souad, additional, BEKOUACI, Souad, additional, Sahraoui, Souha, additional, Hassiba, Tali Maamar, additional, Soraya, Talha, additional, Mourad, TALEB, additional, Fella, TERKMANI, additional, Soraya, TALHA, additional, Wassila, TOUISI, additional, Kammoun, Wafa, additional, OUAHIOUNE, Wahiba, additional, Berrazegua, Yosra, additional, Amel, ZEMMOUR, additional, Sarah, ZEROUAL, additional, AMIR, Zine Charif, additional, Zouafi, Zineb, additional, Dellagi, Koussay, additional, Abdelhak, Sonia, additional, Boubaker, Mohamed Samir, additional, Chica, Claudia, additional, and Rouleau, Etienne, additional

Published
2024
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3. A regionally based precision medicine implementation initiative in North Africa:The PerMediNA consortium

Author

benider, Abdellatif, El-hamouchi, Adil, Sonia, AIT YOUNES, Kahla, Alia Ben, Abdelmalik, AMIMER, Zine, AMIR, charif, Jaballah, Amira, Louiza, Amira, GIHBID, Amina, Achouak, BACHIR, Djihad, BELABDI, Said, BELHADEF, Rafika, BELNOUI, Ayed, Belarbi, Nadia, Benchakroune, Nadia, Benchakroun, Meriem, BENINAL, Radja, BENKALI, Asma, BENSIHAMDI, Hichem, BENYOUCEF, Thouraya, BENDIMRED, Nadir, Bensouf, Rafika, BENNOUI, Yosra, Berrazegua, Latefa, Biskri, Saida, BOUAOUNI, Meriem, BOUANIKA, Abderezzak, Bouamra, Hanen, Bouaziz, Zohra, Boudinar Fatma, Sabrina, Bouhara, Nadir, Boussouf, Saber, Boutayeb, Adda, BOUNEDJAR, Omar, Chabati, Cherine, Charfeddine, Dalia, Chilla, Mehemmai, Chiraz, Bouabid, Cyrine, Souad, Dahnane, Soraya, DIAB, Adlane, Dib Hocine, Wider, Dorra, Fawzi, DERRAR, Amina, ELKEBOUB, Hicham, EL ATTAR, Elmostafa, EL FAHIME, Djazia, ELHADEF, Fehri, Emna, Hakkou, Farid, Hadjam, Farida, Mamboisse, Fanny, Widad, GAIS, Merzak, GHARNAOUT, Nidhal, Guessoum Amir, Farida, HADJAM, SAHRAOUI, HADJ, Rachdi, Haifa, Yaiche, Hamza, Leila, HANNACHI, Mahfouf, Hassan, Bouguerra, Hend, Attar, Hicham El, Hassine, Hichem Ben, Filali, Houda, Harmak, Houda, Kanaane, Houda, Benamri, Ichrak, Alami, Imane El, Reda, KASSA, Bendahhou, Karima, Errafii, Khaoula, Bairi, Khalid El, Wafaa, Khaali, Mehdi, KARKOURI, Maria, Kabbage, Wafa, Kammoun, Houda, Kanaane, Reda, Kassa, Narimane, LAOUAR, Biskri, Latefa, Amira, Louiza, Marie, Louise, Chevalier, Charion, Nabila, MALOUM, Monot, Marc, Saadi, Mariem, Campone, Mario, Mrad, Mehdi, KARKOURI, MEHDI, Mohamed, MELIZI, Saadi, Meriem, CHAHER, Meriem, Ardhaoui, Monia, TALEB, Mourad, Jmiaa, Nadia Ben, Benchakroun, Nadia, Hadhri, Najet, SALHI, Nawel, Taoufiq, Nezha, Jandoubi, Nouha, Wahiba, OUAHIOUNE, Salima, OULDSLIMANE, BELNOUI, Rafika, Louiza, Rahman Amira, Benkhalifa, Rym, Boutaib, Saber, Boutayeb, Saber, Menif, Samia, OULDSLIMANE, Salima, Valcke, Samuel, Assia, SLIMANI, Nasr, Sonia Ben, Maatoug, Sonia, Younes, Sonia Ait, BENCHEHIDA, Souad, BEKOUACI, Souad, Sahraoui, Souha, Hassiba, Tali Maamar, Soraya, Talha, Mourad, TALEB, Fella, TERKMANI, Soraya, TALHA, Wassila, TOUISI, Kammoun, Wafa, OUAHIOUNE, Wahiba, Berrazegua, Yosra, Amel, ZEMMOUR, Sarah, ZEROUAL, AMIR, Zine Charif, Zouafi, Zineb, Hamdi, Yosr, Boujemaa, Maroua, Ben Aissa-Haj, Jihenne, Radouani, Fouzia, Khyatti, Meriem, Mighri, Najah, Hannachi, Mariem, Ghedira, Kais, Souiai, Oussema, Hkimi, Chaima, Kammoun, Mohamed Selim, Mejri, Nesrine, Bouaziz, Hanen, Beloufa, Mohamed Amine, Charoute, Hicham, Barakat, Abdelhamid, Najjar, Imène, Taniguchi, Hiroaki, Pietrosemoli, Natalia, Dellagi, Koussay, Abdelhak, Sonia, Boubaker, Mohamed Samir, Chica, Claudia, and Rouleau, Etienne

Published
2024
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5. Uncovering the clinical relevance of unclassified variants in DNA repair genes: a focus on BRCA negative Tunisian cancer families.

Author

Boujemaa, Maroua, Nouira, Fatma, Jandoubi, Nouha, Mejri, Nesrine, Bouaziz, Hanen, Charfeddine, Cherine, Ben Nasr, Sonia, Labidi, Soumaya, El Benna, Houda, Berrazega, Yosra, Rachdi, Haifa, Daoud, Nouha, Benna, Farouk, Haddaoui, Abderrazek, Abdelhak, Sonia, Boubaker, Mohamed Samir, Boussen, Hamouda, and Hamdi, Yosr

Abstract

Introduction: Recent advances in sequencing technologies have significantly increased our capability to acquire large amounts of genetic data. However, the clinical relevance of the generated data continues to be challenging particularly with the identification of Variants of Uncertain Significance (VUSs) whose pathogenicity remains unclear. In the current report, we aim to evaluate the clinical relevance and the pathogenicity of VUSs in DNA repair genes among Tunisian breast cancer families. Methods: A total of 67 unsolved breast cancer cases have been investigated. The pathogenicity of VUSs identified within 26 DNA repair genes was assessed using different in silico prediction tools including SIFT, PolyPhen2, Align-GVGD and VarSEAK. Effects on the 3D structure were evaluated using the stability predictor DynaMut and molecular dynamics simulation with NAMD. Family segregation analysis was also performed. Results: Among a total of 37 VUSs identified, 11 variants are likely deleterious affecting ATM, BLM, CHEK2, ERCC3, FANCC, FANCG, MSH2, PMS2 and RAD50 genes. The BLM variant, c.3254dupT, is novel and seems to be associated with increased risk of breast, endometrial and colon cancer.Moreover, c.6115G>A in ATMand c.592+3A>T in CHEK2 were of keen interest identified in families with multiple breast cancer cases and their familial cosegregation with disease has been also confirmed. In addition, functional in silico analyses revealed that the ATM variant may lead to protein immobilization and rigidification thus decreasing its activity. We have also shown that FANCC and FANCG variants may lead to protein destabilization and alteration of the structure compactness which may affect FANCC and FANCG protein activity. Conclusion: Our findings revealed that VUSs in DNA repair genes might be associated with increased cancer risk and highlight the need for variant reclassification for better disease management. This will help to improve the genetic diagnosis and therapeutic strategies of cancer patients not only in Tunisia but also in neighboring countries. [ABSTRACT FROM AUTHOR]

Published
2024
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7. The Prevalence, Genotype Distribution and Risk Factors of Human Papillomavirus in Tunisia: A National-Based Study

Author

Ardhaoui, Monia, primary, Letaief, Hejer, additional, Ennaifer, Emna, additional, Bougatef, Souha, additional, Lassili, Thelja, additional, Bel Haj Rhouma, Rahima, additional, Fehri, Emna, additional, Ouerhani, Kaouther, additional, Guizani, Ikram, additional, Mchela, Myriam, additional, Chahed, Karim, additional, Chahed, Mohamed Kouni, additional, Boubaker, Mohamed Samir, additional, and Bouafif Ben Alaya, Nissaf, additional

Published
2022
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9. Histological and immunological differences between zoonotic cutaneous leishmaniasis due to Leishmania major and sporadic cutaneous leishmaniasis due to Leishmania infantum

Author

Boussoffara Thouraya, Boubaker Mohamed Samir, Ben Ahmed Melika, Mokni Mourad, Guizani Ikram, Ben Salah Afif, and Louzir Hechmi

Subjects
Leishmania major, Leishmania infantum, lesion, cytokines, chemokines, Infectious and parasitic diseases, RC109-216
Abstract

Lesion features in cutaneous leishmaniasis (CL) depend on the infecting Leishmania species as well as on host immune reponse. In this study, we evaluated the histological and immunological differences between two forms of CL described in Tunisia: zoonotic cutaneous leishmaniasis (ZCL) caused by L. major and sporadic cutaneous leishmaniasis (SCL) caused by L. infantum. Histological analysis showed a mild to moderate infiltrate within ZCL lesions. In contrast, massive infiltration of the dermis was observed within SCL lesions. Contrary to ZCL, infiltrates within SCL lesions were organized and showed granuloma composed of macrophages and lymphocytes. In addition, immunohistochemical analysis showed a predominance of CD4+ T cells within both CL forms. Furthermore, expression of interferon-γ, interleukin (IL)-10, IL-8, IL-13 and monocyte chemotactic protein (MCP)-1 was evaluated using real-time quantitative polymerase chain reaction (RT-qPCR). MCP-1 and IL-10 were expressed at comparable levels in ZCL and SCL lesions. Interestingly, IL-8 mRNA levels were significantly higher in ZCL lesions compared to SCL lesions, but interferon-γ was significantly higher in SCL lesions than in ZCL lesions.

Published
2019
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13. A Rare MSH2 Variant as a Candidate Marker for Lynch Syndrome II Screening in Tunisia: A Case of Diffuse Gastric Carcinoma.

Author

Kabbage, Maria, Ben Aissa-Haj, Jihenne, Othman, Houcemeddine, Jaballah-Gabteni, Amira, Laarayedh, Sarra, Elouej, Sahar, Medhioub, Mouna, Kettiti, Haifa Tounsi, Khsiba, Amal, Mahmoudi, Moufida, BelFekih, Houda, Maaloul, Afifa, Touinsi, Hassen, Hamzaoui, Lamine, Chelbi, Emna, Abdelhak, Sonia, Boubaker, Mohamed Samir, and Azzouz, Mohamed Mousaddak

Subjects
HEREDITARY nonpolyposis colorectal cancer, STOMACH cancer, MEDICAL screening, ELECTRIC potential, STRUCTURAL bioinformatics
Abstract

Several syndromic forms of digestive cancers are known to predispose to early-onset gastric tumors such as Hereditary Diffuse Gastric Cancer (HDGC) and Lynch Syndrome (LS). LSII is an extracolonic cancer syndrome characterized by a tumor spectrum including gastric cancer (GC). In the current work, our main aim was to identify the mutational spectrum underlying the genetic predisposition to diffuse gastric tumors occurring in a Tunisian family suspected of both HDGC and LS II syndromes. We selected the index case "JI-021", which was a woman diagnosed with a Diffuse Gastric Carcinoma and fulfilling the international guidelines for both HDGC and LSII syndromes. For DNA repair, a custom panel targeting 87 candidate genes recovering the four DNA repair pathways was used. Structural bioinformatics analysis was conducted to predict the effect of the revealed variants on the functional properties of the proteins. DNA repair genes panel screening identified two variants: a rare MSH2 c.728G>A classified as a variant with uncertain significance (VUS) and a novel FANCD2 variant c.1879G>T. The structural prediction model of the MSH2 variant and electrostatic potential calculation showed for the first time that MSH2 c.728G>A is likely pathogenic and is involved in the MSH2-MLH1 complex stability. It appears to affect the MSH2-MLH1 complex as well as DNA-complex stability. The c.1879G>T FANCD2 variant was predicted to destabilize the protein structure. Our results showed that the MSH2 p.R243Q variant is likely pathogenic and is involved in the MSH2-MLH1 complex stability, and molecular modeling analysis highlights a putative impact on the binding with MLH1 by disrupting the electrostatic potential, suggesting the revision of its status from VUS to likely pathogenic. This variant seems to be a shared variant in the Mediterranean region. These findings emphasize the importance of testing DNA repair genes for patients diagnosed with diffuse GC with suspicion of LSII and colorectal cancer allowing better clinical surveillance for more personalized medicine. [ABSTRACT FROM AUTHOR]

Published
2022
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14. CDH1 and CTNNA1 Genetic Screening in Tunisian Patients with Hereditary Diffuse Gastric Carcinoma

Author

AISSA-HAJ, Jihenne BEN, primary, Kabbage, Maria, additional, Othmen, Houcemeddine, additional, Saulnier, Patrick, additional, Ferah, Azer, additional, Jaballah-Gabteni, Amira, additional, Medhioub, Mouna, additional, Khsiba, Amel, additional, Maaloul, Afifa, additional, Belfkih, Houda, additional, Touinsi, Hassen, additional, Nasr, Sonia Ben, additional, Hamzaoui, Lamine, additional, Chalbi, Emna, additional, Abdelhak, Sonia, additional, Boubaker, Mohamed Samir, additional, Azzouz, Mousaddak, additional, and Rouleau, Etienne, additional

Published
2021
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15. Germline copy number variations in BRCA1/2 negative families: Role in the molecular etiology of hereditary breast cancer in Tunisia

Author

Boujemaa, Maroua, primary, Hamdi, Yosr, additional, Mejri, Nesrine, additional, Romdhane, Lilia, additional, Ghedira, Kais, additional, Bouaziz, Hanen, additional, El Benna, Houda, additional, Labidi, Soumaya, additional, Dallali, Hamza, additional, Jaidane, Olfa, additional, Ben Nasr, Sonia, additional, Haddaoui, Abderrazek, additional, Rahal, Khaled, additional, Abdelhak, Sonia, additional, Boussen, Hamouda, additional, and Boubaker, Mohamed Samir, additional

Published
2021
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17. Whole exome sequencing reveals a combination of rare high and low penetrance variants that correlates with familial breast cancer relative risk

Author

rekaya, Mariem Ben, primary, Hamdi, Yosr, additional, Benna, Houda El, additional, Mejri, Nessrine, additional, Jaidane, Olfa, additional, Ayari, Jihene, additional, Nasr, Sonia Ben, additional, Dallali, Hamza, additional, Messaoud, Olfa, additional, Meddeb, Rym, additional, Mighri, Najah, additional, Boujemaa, Maroua, additional, Boubaker, Mohamed Samir, additional, Haddaoui, Abderazek, additional, Mrad, Ridha, additional, Boussen, Hamouda, additional, Abdelhak, Sonia, additional, and Labidi, Soumaya, additional

Published
2020
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20. Identification of a Novel Mutation ofLAMB3Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing

Author

Laroussi, Nadia, primary, Messaoud, Olfa, additional, Chargui, Mariem, additional, Ben Fayala, Chaima, additional, Elahlafi, Abdelaziz, additional, Mokni, Mourad, additional, Bashamboo, Anu, additional, McElreavey, Kenneth, additional, Boubaker, Mohamed Samir, additional, Yacoub Youssef, Houda, additional, and Abdelhak, Sonia, additional

Published
2017
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21. Identification of a CDH12potential candidate genetic variant for an autosomal dominant form of transgrediens and progrediens palmoplantar keratoderma in a Tunisian family

Author

Charfeddine, Cherine, Dallali, Hamza, Abdessalem, Ghaith, Ghedira, Kais, Hamdi, Yosr, Elouej, Sahar, Landoulsi, Zied, Delague, Valérie, Lagarde, Arnaud, Levy, Nicolas, El-Amraoui, Aziz, Boubaker, Mohamed Samir, Abdelhak, Sonia, and Mokni, Mourad

Abstract

Molecular diagnosis of rare inherited palmoplantar keratoderma (PPK) is still challenging. We investigated at the clinical and genetic level a consanguineous Tunisian family presenting an autosomal dominant atypical form of transgrediens and progrediens PPK to better characterize this ultrarare disease and to identify its molecular etiology. Whole-exome sequencing (WES), filtering strategies, and bioinformatics analysis have been achieved. Clinical investigation and follow up over 13 years of this Tunisian family with three siblings formerly diagnosed as an autosomal recessive form of Mal de Melela-like conducted us to reconsider its initial phenotype. Indeed, the three patients presented clinical features that overlap both Mal de Meleda and progressive symmetric erythrokeratoderma (PSEK). The mode of inheritance was also reconsidered, since the mother, initially classified as unaffected, exhibited a similar expression of the disease. WES analysis showed the absence of potentially functional rare variants in known PPKs or PSEK-related genes. Results revealed a novel heterozygous nonsynonymous variant in cadherin-12 gene (CDH12, NM_004061, c.1655C > A, p.Thr552Asn) in all affected family members. This variant is absent in dbSNP and in 50 in-house control exomes. In addition, in silico analysis of the mutated 3D domain structure predicted that this variant would result in cadherin-12 protein destabilization and thermal instability. Functional annotation and biological network construction data provide further supporting evidence for the potential role of CDH12in the maintenance of skin integrity. Taken together, these results suggest that CDH12gene is a potential candidate gene for an atypical presentation of an autosomal dominant form of transgrediens and progrediens PPK.

Published
2020
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23. A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy

Author

Ben Rekaya, Mariem, primary, Laroussi, Nadia, additional, Messaoud, Olfa, additional, Jones, Mariem, additional, Jerbi, Manel, additional, Naouali, Chokri, additional, Bouyacoub, Yosra, additional, Chargui, Mariem, additional, Kefi, Rym, additional, Fazaa, Becima, additional, Boubaker, Mohamed Samir, additional, Boussen, Hamouda, additional, Mokni, Mourad, additional, Abdelhak, Sonia, additional, Zghal, Mohamed, additional, Khaled, Aida, additional, and Yacoub-Youssef, Houda, additional

Published
2014
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24. Particular Mal de Meleda phenotypes in Tunisia and mutations founder effect in the Mediterranean region

Author

Bchetnia, Mbarka, Laroussi, Nadia, Youssef, Monia, Charfeddine, Cherine, Ben Brick, Ahlem Sabrine, Boubaker, Mohamed Samir, Mokni, Mourad, Abdelhak, Sonia, Zili, Jameleddine, Benmously, Rym, Bchetnia, Mbarka, Laroussi, Nadia, Youssef, Monia, Charfeddine, Cherine, Ben Brick, Ahlem Sabrine, Boubaker, Mohamed Samir, Mokni, Mourad, Abdelhak, Sonia, Zili, Jameleddine, and Benmously, Rym

Abstract

Mal de Meleda (MDM) is a rare, autosomal recessive form of palmoplantar keratoderma. It is characterized by erythema and hyperkeratosis of the palms and soles that progressively extend to the dorsal surface of the hands and feet. It is caused by mutations in SLURP-1 gene encoding for secreted mammalian Ly-6/uPAR-related protein 1 (SLURP-1). We performed mutational analysis by direct sequencing of SLURP-1 gene in order to identify the genetic defect in three unrelated families (families MDM-12, MDM-13, and MDM-14) variably affected with transgressive palmoplantar keratoderma. A spectrum of clinical presentations with variable features has been observed from the pronounced to the transparent hyperkeratosis. We identified the 82delT frame shift mutation in the SLURP-1 gene in both families MDM-12 and MDM-13 and the missense variation p.Cys99Tyr in family MDM-14. To date, the 82delT variation is the most frequent cause of MDM in the world which is in favour of a recurrent molecular defect. The p.Cys99Tyr variation is only described in Tunisian families making evidence of founder effect mutation of likely Tunisian origin. Our patients presented with very severe to relatively mild phenotypes, including multiple keratolytic pits observed for one patient in the hyperkeratotic area which was not previously reported. The phenotypic variability may reflect the influence of additional factors on disease characteristics. This report further expands the spectrum of clinical phenotypes associated with mutations in SLURP1 in the Mediterranean population.

Published
2013
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25. Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia

Author

Ben Brick, Ahlem Sabrine, primary, Laroussi, Nadia, additional, Mesrati, Hela, additional, Kefi, Rym, additional, Bchetnia, Mbarka, additional, Lasram, Khaled, additional, Ben Halim, Nizar, additional, Romdhane, Lilia, additional, Ouragini, Houyem, additional, Marrakchi, Salaheddine, additional, Boubaker, Mohamed Samir, additional, Meddeb Cherif, Mounira, additional, Castiglia, Daniele, additional, Hovnanian, Alain, additional, Abdelhak, Sonia, additional, and Turki, Hamida, additional

Published
2013
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26. Further Evidence of Mutational Heterogeneity of theXPCGene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations

Author

Ben Rekaya, Mariem, primary, Jerbi, Manel, additional, Messaoud, Olfa, additional, Ben Brick, Ahlem Sabrine, additional, Zghal, Mohamed, additional, Mbarek, Chiraz, additional, Chadli-Debbiche, Ashraf, additional, Jones, Meriem, additional, Mokni, Mourad, additional, Boussen, Hamouda, additional, Boubaker, Mohamed Samir, additional, Fazaa, Becima, additional, Yacoub-Youssef, Houda, additional, and Abdelhak, Sonia, additional

Published
2013
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28. A Founder Large Deletion Mutation in Xeroderma Pigmentosum-Variant Form in Tunisia: Implication for Molecular Diagnosis and Therapy.

Author

Rekaya, Mariem Ben, Laroussi, Nadia, Messaoud, Olfa, Jones, Mariem, Manel Jerbi, Naouali, Chokri, Bouyacoub, Yosra, Chargui, Mariem, Rym Kefi, Fazaa, Becima, Boubaker, Mohamed Samir, Boussen, Hamouda, Mokni, Mourad, Abdelhak, Sonia, Zghal, Mohamed, Khaled, Aida, and Yacoub-Youssef, Houda

Abstract

Xeroderma pigmentosum Variant (XP-V) formis characterized by a late onset of skin symptoms. Our aimis the clinical and genetic investigations of XP-V Tunisian patients in order to develop a simple tool for early diagnosis. We investigated 16 suspected XP patients belonging to ten consanguineous families. Analysis of the POLH gene was performed by linkage analysis, long range PCR, and sequencing. Genetic analysis showed linkage to the POLH gene with a founder haplotype in all affected patients. Long range PCR of exon 9 to exon 11 showed a 3926 bp deletion compared to control individuals. Sequence analysis demonstrates that this deletion has occurred between two Alu-Sq2 repetitive sequences in the same orientation, respectively, in introns 9 and 10. We suggest that thismutation POLH NG 009252.1: g.36847 40771del3925 is caused by an equal crossover event that occurred between two homologous chromosomes at meiosis. These results allowed us to develop a simple test based on a simple PCR in order to screen suspected XP-Vpatients. In Tunisia, the prevalence of XP-Vgroup seems to be underestimated and clinical diagnosis is usually later. Cascade screening of this founder mutation by PCR in regions with high frequency of XP provides a rapid and cost-effective tool for early diagnosis of XP-V in Tunisia and North Africa [ABSTRACT FROM AUTHOR]

Published
2014
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29. Further Evidence of Mutational Heterogeneity of the XPC Gene in Tunisian Families: A Spectrum of Private and Ethnic Specific Mutations.

Author

Rekaya, Mariem Ben, Jerbi, Manel, Messaoud, Olfa, Ben Brick, Ahlem Sabrine, Zghal, Mohamed, Mbarek, Chiraz, Chadli-Debbiche, Ashraf, Jones, Meriem, Mokni, Mourad, Boussen, Hamouda, Boubaker, Mohamed Samir, Fazaa, Becima, Yacoub-Youssef, Houda, and Abdelhak, Sonia

Abstract

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease. [ABSTRACT FROM AUTHOR]

Published
2013
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32. Further evidence of mutational heterogeneity of the XPC gene in Tunisian families: a spectrum of private and ethnic specific mutations.

Author

Ben Rekaya M, Jerbi M, Messaoud O, Ben Brick AS, Zghal M, Mbarek C, Chadli-Debbiche A, Jones M, Mokni M, Boussen H, Boubaker MS, Fazaa B, Yacoub-Youssef H, and Abdelhak S

Subjects
Adolescent, Child, Child, Preschool, Electrophoresis, Agar Gel, Family, Female, Genetic Loci genetics, Haplotypes genetics, Humans, Male, Microsatellite Repeats genetics, Pedigree, Tunisia, Young Adult, DNA-Binding Proteins genetics, Ethnicity genetics, Genetic Heterogeneity, Genetic Predisposition to Disease, Mutation genetics
Abstract

Xeroderma Pigmentosum (XP) is a rare recessive autosomal cancer prone disease, characterized by UV hypersensitivity and early appearance of cutaneous and ocular malignancies. We investigated four unrelated patients suspected to be XP-C. To confirm linkage to XPC gene, genotyping and direct sequencing of XPC gene were performed. Pathogenic effect of novel mutations was confirmed by reverse Transciptase PCR. Mutation screening revealed the presence of two novel mutations g.18246G>A and g.18810G>T in the XPC gene (NG_011763.1). The first is present in one patient XP50NEF, but the second is present in three unrelated patients (XP16KEB, XP28SFA, and XP45GB). These 3 patients are from three different cities of Southern Tunisia and bear the same haplotype, suggesting a founder effect. Reverse Transciptase PCR revealed the absence of the XPC mRNA. In Tunisia, as observed in an other severe genodermatosis, the mutational spectrum of XP-C group seems to be homogeneous with some clusters of heterogeneity that should be taken into account to improve molecular diagnosis of this disease.

Published
2013
Full Text
View/download PDF

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