Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Identifieur interne : 000411 ( Pmc/Curation ); précédent : 000410; suivant : 000412Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Auteurs : Lilia Romdhane [Tunisie] ; Rym Kefi [Tunisie] ; Hela Azaiez [Tunisie] ; Nizar Ben Halim [Tunisie] ; Koussay Dellagi [France] ; Sonia Abdelhak [Tunisie]Source :
- Orphanet Journal of Rare Diseases [ 1750-1172 ] ; 2012.
Abstract
Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities.
We report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory.
We identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic
This report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.
Url:
DOI: 10.1186/1750-1172-7-52
PubMed: 22908982
PubMed Central: 3495028
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Koussay Dellagi<affiliation><nlm:aff id="I2">GIS CRVOI, Centre de Recherche et de Veille sur les Maladies Emergentes dans l'Océan Indien, Saint-Denis, La Réunion</nlm:aff>
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<affiliation wicri:level="1"><nlm:aff id="I3">Institut de Recherche pour le Développement, PB 50172, 97492, Ste Clotilde, France</nlm:aff>
<country xml:lang="fr">France</country>
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Le document en format XML
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<front><div type="abstract" xml:lang="en"><sec><title>Background</title>
<p>Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities.</p>
</sec>
<sec><title>Method</title>
<p>We report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory.</p>
</sec>
<sec><title>Results</title>
<p>We identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic <italic>epidermolysis bullosa</italic>
and <italic>xeroderma pigmentosa</italic>
.</p>
</sec>
<sec><title>Conclusion</title>
<p>This report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.</p>
</sec>
</div>
</front>
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<pmc article-type="research-article" xml:lang="en"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Orphanet J Rare Dis</journal-id>
<journal-id journal-id-type="iso-abbrev">Orphanet J Rare Dis</journal-id>
<journal-title-group><journal-title>Orphanet Journal of Rare Diseases</journal-title>
</journal-title-group>
<issn pub-type="epub">1750-1172</issn>
<publisher><publisher-name>BioMed Central</publisher-name>
</publisher>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">22908982</article-id>
<article-id pub-id-type="pmc">3495028</article-id>
<article-id pub-id-type="publisher-id">1750-1172-7-52</article-id>
<article-id pub-id-type="doi">10.1186/1750-1172-7-52</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Research</subject>
</subj-group>
</article-categories>
<title-group><article-title>Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East</article-title>
</title-group>
<contrib-group><contrib contrib-type="author" id="A1"><name><surname>Romdhane</surname>
<given-names>Lilia</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>lilia.romdhane@gmail.com</email>
</contrib>
<contrib contrib-type="author" id="A2"><name><surname>Kefi</surname>
<given-names>Rym</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>rym.kefi@pasteur.rns.tn</email>
</contrib>
<contrib contrib-type="author" id="A3"><name><surname>Azaiez</surname>
<given-names>Hela</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>hela.azaiez@pasteur.rns.tn</email>
</contrib>
<contrib contrib-type="author" id="A4"><name><surname>Halim</surname>
<given-names>Nizar Ben</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>benhalim_nizar@yahoo.fr</email>
</contrib>
<contrib contrib-type="author" id="A5"><name><surname>Dellagi</surname>
<given-names>Koussay</given-names>
</name>
<xref ref-type="aff" rid="I2">2</xref>
<xref ref-type="aff" rid="I3">3</xref>
<email>koussay.dellagi@ird.fr</email>
</contrib>
<contrib contrib-type="author" corresp="yes" id="A6"><name><surname>Abdelhak</surname>
<given-names>Sonia</given-names>
</name>
<xref ref-type="aff" rid="I1">1</xref>
<email>sonia.abdelhak@pasteur.rns.tn</email>
</contrib>
</contrib-group>
<aff id="I1"><label>1</label>
Laboratory of Biomedical Genomics and Oncogenetics, Institut Pasteur de Tunis, BP 74, 13 Place Pasteur, Tunis 1002, Tunisia</aff>
<aff id="I2"><label>2</label>
GIS CRVOI, Centre de Recherche et de Veille sur les Maladies Emergentes dans l'Océan Indien, Saint-Denis, La Réunion</aff>
<aff id="I3"><label>3</label>
Institut de Recherche pour le Développement, PB 50172, 97492, Ste Clotilde, France</aff>
<pub-date pub-type="collection"><year>2012</year>
</pub-date>
<pub-date pub-type="epub"><day>21</day>
<month>8</month>
<year>2012</year>
</pub-date>
<volume>7</volume>
<fpage>52</fpage>
<lpage>52</lpage>
<history><date date-type="received"><day>29</day>
<month>2</month>
<year>2012</year>
</date>
<date date-type="accepted"><day>2</day>
<month>8</month>
<year>2012</year>
</date>
</history>
<permissions><copyright-statement>Copyright ©2012 Romdhane et al.; licensee BioMed Central Ltd.</copyright-statement>
<copyright-year>2012</copyright-year>
<copyright-holder>Romdhane et al.; licensee BioMed Central Ltd.</copyright-holder>
<license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by/2.0"><license-p>This is an Open Access article distributed under the terms of the Creative Commons Attribution License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by/2.0">http://creativecommons.org/licenses/by/2.0</ext-link>
), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p>
</license>
</permissions>
<self-uri xlink:href="http://www.ojrd.com/content/7/1/52"></self-uri>
<abstract><sec><title>Background</title>
<p>Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the site of invasions and migratory waves of allogenic populations and ethnic groups such as Phoenicians, Romans, Vandals, Arabs, Ottomans and French. Like neighbouring and Middle Eastern countries, the Tunisian population shows a relatively high rate of consanguinity and endogamy that favor expression of recessive genetic disorders at relatively high rates. Many factors could contribute to the recurrence of monogenic morbid trait expression. Among them, founder mutations that arise in one ancestral individual and diffuse through generations in isolated communities.</p>
</sec>
<sec><title>Method</title>
<p>We report here on founder mutations in the Tunisian population by a systematic review of all available data from PubMed, other sources of the scientific literature as well as unpublished data from our research laboratory.</p>
</sec>
<sec><title>Results</title>
<p>We identified two different classes of founder mutations. The first includes founder mutations so far reported only among Tunisians that are responsible for 30 genetic diseases. The second group represents founder haplotypes described in 51 inherited conditions that occur among Tunisians and are also shared with other North African and Middle Eastern countries. Several heavily disabilitating diseases are caused by recessive founder mutations. They include, among others, neuromuscular diseases such as congenital muscular dystrophy and spastic paraglegia and also severe genodermatoses such as dystrophic <italic>epidermolysis bullosa</italic>
and <italic>xeroderma pigmentosa</italic>
.</p>
</sec>
<sec><title>Conclusion</title>
<p>This report provides informations on founder mutations for 73 genetic diseases either specific to Tunisians or shared by other populations. Taking into account the relatively high number and frequency of genetic diseases in the region and the limited resources, screening for these founder mutations should provide a rapid and cost effective tool for molecular diagnosis. Indeed, our report should help designing appropriate measures for carrier screening, better evaluation of diseases burden and setting up of preventive measures at the regional level.</p>
</sec>
</abstract>
<kwd-group><kwd>Rare genetic disorders</kwd>
<kwd>Founder mutations</kwd>
<kwd>Common haplotype</kwd>
<kwd>Diagnosis</kwd>
<kwd>Mutation screening</kwd>
<kwd>Tunisia</kwd>
<kwd>North Africa</kwd>
<kwd>Middle East</kwd>
<kwd>Ethnicity</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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