The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum
Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tuni...
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| Veröffentlicht in: | Community genetics 2013-01, Vol.16 (5), p.251-254 |
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| creator | Messaoud, O. Rekaya, M. Ben Jerbi, M. Ouertani, I. Kefi, R. Laroussi, N. Bouyacoub, Y. Benfadhel, S. Yacoub-Youssef, H. Boubaker, S. Zghal, M. Mrad, R. Amouri, A. Abdelhak, S. |
| description | Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia. |
| doi_str_mv | 10.1159/000354584 |
| format | Article |
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Ben ; Jerbi, M. ; Ouertani, I. ; Kefi, R. ; Laroussi, N. ; Bouyacoub, Y. ; Benfadhel, S. ; Yacoub-Youssef, H. ; Boubaker, S. ; Zghal, M. ; Mrad, R. ; Amouri, A. ; Abdelhak, S.</creator><creatorcontrib>Messaoud, O. ; Rekaya, M. Ben ; Jerbi, M. ; Ouertani, I. ; Kefi, R. ; Laroussi, N. ; Bouyacoub, Y. ; Benfadhel, S. ; Yacoub-Youssef, H. ; Boubaker, S. ; Zghal, M. ; Mrad, R. ; Amouri, A. ; Abdelhak, S.</creatorcontrib><description>Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.</description><identifier>ISSN: 1662-4246</identifier><identifier>EISSN: 1662-8063</identifier><identifier>DOI: 10.1159/000354584</identifier><identifier>PMID: 24021614</identifier><language>eng</language><publisher>Basel, Switzerland: S. Karger AG</publisher><subject>Abortion, Eugenic ; Adult ; Consanguinity ; DNA Mutational Analysis ; Female ; Genetics ; Heterozygote ; Homozygote ; Human genetics ; Humans ; Life Sciences ; Mutation ; Mutation - genetics ; Original Paper ; Pregnancy ; Prenatal Diagnosis ; Referral and Consultation ; Tunisia ; Xeroderma Pigmentosum - diagnosis ; Xeroderma Pigmentosum - genetics</subject><ispartof>Community genetics, 2013-01, Vol.16 (5), p.251-254</ispartof><rights>2013 S. Karger AG, Basel</rights><rights>Copyright (c) 2013 S. Karger AG, Basel</rights><rights>Distributed under a Creative Commons Attribution 4.0 International License</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c455t-e8e1a187e904bac3d9c71a8f35a44faf9c4f680abba66d0199ca3d19c14c17363</citedby><cites>FETCH-LOGICAL-c455t-e8e1a187e904bac3d9c71a8f35a44faf9c4f680abba66d0199ca3d19c14c17363</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.jstor.org/stable/pdf/26778128$$EPDF$$P50$$Gjstor$$H</linktopdf><linktohtml>$$Uhttps://www.jstor.org/stable/26778128$$EHTML$$P50$$Gjstor$$H</linktohtml><link.rule.ids>230,314,776,780,799,881,2423,27901,27902,57992,58225</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24021614$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink><backlink>$$Uhttps://riip.hal.science/pasteur-01375121$$DView record in HAL$$Hfree_for_read</backlink></links><search><creatorcontrib>Messaoud, O.</creatorcontrib><creatorcontrib>Rekaya, M. Ben</creatorcontrib><creatorcontrib>Jerbi, M.</creatorcontrib><creatorcontrib>Ouertani, I.</creatorcontrib><creatorcontrib>Kefi, R.</creatorcontrib><creatorcontrib>Laroussi, N.</creatorcontrib><creatorcontrib>Bouyacoub, Y.</creatorcontrib><creatorcontrib>Benfadhel, S.</creatorcontrib><creatorcontrib>Yacoub-Youssef, H.</creatorcontrib><creatorcontrib>Boubaker, S.</creatorcontrib><creatorcontrib>Zghal, M.</creatorcontrib><creatorcontrib>Mrad, R.</creatorcontrib><creatorcontrib>Amouri, A.</creatorcontrib><creatorcontrib>Abdelhak, S.</creatorcontrib><title>The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum</title><title>Community genetics</title><addtitle>Public Health Genomics</addtitle><description>Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.</description><subject>Abortion, Eugenic</subject><subject>Adult</subject><subject>Consanguinity</subject><subject>DNA Mutational Analysis</subject><subject>Female</subject><subject>Genetics</subject><subject>Heterozygote</subject><subject>Homozygote</subject><subject>Human genetics</subject><subject>Humans</subject><subject>Life Sciences</subject><subject>Mutation</subject><subject>Mutation - genetics</subject><subject>Original Paper</subject><subject>Pregnancy</subject><subject>Prenatal Diagnosis</subject><subject>Referral and Consultation</subject><subject>Tunisia</subject><subject>Xeroderma Pigmentosum - diagnosis</subject><subject>Xeroderma Pigmentosum - genetics</subject><issn>1662-4246</issn><issn>1662-8063</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqF0d2L1DAQAPAiineePviuUvBFH6qZ5qt9PNbzVljwkBUEH8JsOt3L2jY1aUX_e7t07YEIPiVkfpmZZJLkKbA3ALJ8yxjjUshC3EvOQak8K5ji9097kQt1ljyK8cCYEoqph8lZLlgOCsR58nV7S-nVz56Co85S6usU0-3YueiwSz9RTSFgk66oGwKlrktvAnU4TEfvHO47H1083vlCwVcUWkx7t28n7OPYPk4e1NhEenJaL5LP76-2q3W2-Xj9YXW5yayQcsioIEAoNJVM7NDyqrQasKi5RCFqrEsralUw3O1QqYpBWVrkFZQWhAXNFb9IsjnvLTamD67F8Mt4dGZ9uTE9xoHGYBhwLSGHHzD5V7Pvg_8-UhxM66KlpsGO_BgNaM2LXCsp_k-F4NMHS5VP9OVf9ODH0E0Pn5QCnSutj72-npUNPsZA9dIwMHMcplmGOdkXp4zjrqVqkX-md1fyG4Y9hQXcrK_nFKav6kk9-6daqjyfw4c4-Lvosd0C8oL_Bgvhte4</recordid><startdate>20130101</startdate><enddate>20130101</enddate><creator>Messaoud, O.</creator><creator>Rekaya, M. 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Ben</au><au>Jerbi, M.</au><au>Ouertani, I.</au><au>Kefi, R.</au><au>Laroussi, N.</au><au>Bouyacoub, Y.</au><au>Benfadhel, S.</au><au>Yacoub-Youssef, H.</au><au>Boubaker, S.</au><au>Zghal, M.</au><au>Mrad, R.</au><au>Amouri, A.</au><au>Abdelhak, S.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum</atitle><jtitle>Community genetics</jtitle><addtitle>Public Health Genomics</addtitle><date>2013-01-01</date><risdate>2013</risdate><volume>16</volume><issue>5</issue><spage>251</spage><epage>254</epage><pages>251-254</pages><issn>1662-4246</issn><eissn>1662-8063</eissn><abstract>Aims: Xeroderma pigmentosum (XP, OMIM 278700-278780) is one of the most severe genodermatoses and is relatively frequent in Tunisia. In the absence of any therapy and to better manage the disease, we aimed to develop a molecular tool for DNA-based prenatal diagnosis. Methods: Six consanguineous Tunisian XP families (4 XP-A and 2 XP-C) have benefited from a prenatal diagnosis. Screening for mutations was performed by direct sequencing, while maternal-foetal contamination was checked by genotyping. Results: Among the 7 prenatal diagnoses, 4 foetuses were heterozygous for the screened mutation. Exclusion of contamination by maternal cells was checked. Mutations were detected at a homozygous state in the remaining cases, and the parents decided to terminate pregnancy. Conclusion: Our study illustrates the implementation of prenatal diagnosis for better health support of XP in Tunisia.</abstract><cop>Basel, Switzerland</cop><pub>S. Karger AG</pub><pmid>24021614</pmid><doi>10.1159/000354584</doi><tpages>4</tpages></addata></record> |
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| subjects | Abortion, Eugenic Adult Consanguinity DNA Mutational Analysis Female Genetics Heterozygote Homozygote Human genetics Humans Life Sciences Mutation Mutation - genetics Original Paper Pregnancy Prenatal Diagnosis Referral and Consultation Tunisia Xeroderma Pigmentosum - diagnosis Xeroderma Pigmentosum - genetics |
| title | The Experience of a Tunisian Referral Centre in Prenatal Diagnosis of Xeroderma pigmentosum |
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