Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Identifieur interne : 000617 ( PubMed/Corpus ); précédent : 000616; suivant : 000618Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Auteurs : Majdi Nagara ; Afaf Tiar ; Nizar Ben Halim ; Faten Ben Rhouma ; Olfa Messaoud ; Yosra Bouyacoub ; Rym Kefi ; Saida Hassayoun ; Noura Zouari ; Mohamed Slim Ben Ammar ; Sonia Abdelhak ; Jalel ChemliSource :
- Gene [ 1879-0038 ] ; 2013.
English descriptors
- KwdEn :
- Adolescent (MeSH), Child (MeSH), Child, Preschool (MeSH), Consanguinity (MeSH), DNA Mutational Analysis (MeSH), Female (MeSH), Genetic Association Studies (MeSH), Haplotypes (MeSH), Humans (MeSH), Hyperoxaluria, Primary (diagnosis), Hyperoxaluria, Primary (enzymology), Hyperoxaluria, Primary (genetics), Infant (MeSH), Male (MeSH), Molecular Diagnostic Techniques (MeSH), Mutation, Missense (MeSH), Polymorphism, Single Nucleotide (MeSH), Transaminases (genetics), Tunisia (MeSH), Young Adult (MeSH).
- MESH :
- chemical , genetics : Transaminases.
- geographic : Tunisia.
- diagnosis : Hyperoxaluria, Primary.
- enzymology : Hyperoxaluria, Primary.
- genetics : Hyperoxaluria, Primary.
- Adolescent, Child, Child, Preschool, Consanguinity, DNA Mutational Analysis, Female, Genetic Association Studies, Haplotypes, Humans, Infant, Male, Molecular Diagnostic Techniques, Mutation, Missense, Polymorphism, Single Nucleotide, Young Adult.
Abstract
BACKGROUND
Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited metabolic disease, characterized by progressive kidney failure due to renal deposition of calcium oxalate. Mutations in the AGXT gene, encoding the liver-specific enzyme alanine glyoxylate aminotransferase, are responsible for the disease. We aimed to determine the mutational spectrum causing PH1 and to provide an accurate tool for diagnosis as well as for prenatal diagnosis in the affected families.
METHODS
Direct sequencing was used to detect mutations in the AGXT gene in DNA samples from 13 patients belonging to 12 Tunisian families.
RESULTS
Molecular analysis revealed five mutations causing PH1 in Tunisia. The mutations were identified along exons 1, 2, 4, 5 and 7. The most predominant mutations were the Maghrebian "p.I244T" and the Arabic "p.G190R". Furthermore, three other mutations characteristic of different ethnic groups were found in our study population. These results confirm the mutational heterogeneity related to PH1 in Tunisian population. All the mutations are in a homozygous state, reflecting the high impact of endogamy in our population.
CONCLUSION
Mutation analysis through DNA sequencing can provide a useful first line investigation for PH1. This identification could provide an accurate tool for prenatal diagnosis, genetic counseling and screen for potential presymptomatic individuals.
DOI: 10.1016/j.gene.2013.06.023
PubMed: 23810941
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last="Messaoud">Olfa Messaoud</name></author><author><name sortKey="Bouyacoub, Yosra" sort="Bouyacoub, Yosra" uniqKey="Bouyacoub Y" first="Yosra" last="Bouyacoub">Yosra Bouyacoub</name></author><author><name sortKey="Kefi, Rym" sort="Kefi, Rym" uniqKey="Kefi R" first="Rym" last="Kefi">Rym Kefi</name></author><author><name sortKey="Hassayoun, Saida" sort="Hassayoun, Saida" uniqKey="Hassayoun S" first="Saida" last="Hassayoun">Saida Hassayoun</name></author><author><name sortKey="Zouari, Noura" sort="Zouari, Noura" uniqKey="Zouari N" first="Noura" last="Zouari">Noura Zouari</name></author><author><name sortKey="Ben Ammar, Mohamed Slim" sort="Ben Ammar, Mohamed Slim" uniqKey="Ben Ammar M" first="Mohamed Slim" last="Ben Ammar">Mohamed Slim Ben Ammar</name></author><author><name sortKey="Abdelhak, Sonia" sort="Abdelhak, Sonia" uniqKey="Abdelhak S" first="Sonia" last="Abdelhak">Sonia Abdelhak</name></author><author><name sortKey="Chemli, Jalel" sort="Chemli, Jalel" uniqKey="Chemli J" first="Jalel" last="Chemli">Jalel Chemli</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2013">2013</date><idno type="RBID">pubmed:23810941</idno><idno type="pmid">23810941</idno><idno type="doi">10.1016/j.gene.2013.06.023</idno><idno type="wicri:Area/PubMed/Corpus">000617</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000617</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.</title><author><name sortKey="Nagara, Majdi" sort="Nagara, Majdi" uniqKey="Nagara M" first="Majdi" last="Nagara">Majdi Nagara</name><affiliation><nlm:affiliation>Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique, Tunis 1002, Tunisia.</nlm:affiliation></affiliation></author><author><name sortKey="Tiar, Afaf" sort="Tiar, Afaf" uniqKey="Tiar A" first="Afaf" last="Tiar">Afaf Tiar</name></author><author><name sortKey="Ben Halim, Nizar" sort="Ben Halim, Nizar" uniqKey="Ben Halim N" first="Nizar" last="Ben Halim">Nizar Ben Halim</name></author><author><name sortKey="Ben Rhouma, Faten" sort="Ben Rhouma, Faten" uniqKey="Ben Rhouma F" first="Faten" last="Ben Rhouma">Faten Ben Rhouma</name></author><author><name sortKey="Messaoud, Olfa" sort="Messaoud, Olfa" uniqKey="Messaoud O" first="Olfa" last="Messaoud">Olfa Messaoud</name></author><author><name sortKey="Bouyacoub, Yosra" sort="Bouyacoub, Yosra" uniqKey="Bouyacoub Y" first="Yosra" last="Bouyacoub">Yosra Bouyacoub</name></author><author><name sortKey="Kefi, Rym" sort="Kefi, Rym" uniqKey="Kefi R" first="Rym" last="Kefi">Rym Kefi</name></author><author><name sortKey="Hassayoun, Saida" sort="Hassayoun, Saida" uniqKey="Hassayoun S" first="Saida" last="Hassayoun">Saida Hassayoun</name></author><author><name sortKey="Zouari, Noura" sort="Zouari, Noura" uniqKey="Zouari N" first="Noura" last="Zouari">Noura Zouari</name></author><author><name sortKey="Ben Ammar, Mohamed Slim" sort="Ben Ammar, Mohamed Slim" uniqKey="Ben Ammar M" first="Mohamed Slim" last="Ben Ammar">Mohamed Slim Ben Ammar</name></author><author><name sortKey="Abdelhak, Sonia" sort="Abdelhak, Sonia" uniqKey="Abdelhak S" first="Sonia" last="Abdelhak">Sonia Abdelhak</name></author><author><name sortKey="Chemli, Jalel" sort="Chemli, Jalel" uniqKey="Chemli J" first="Jalel" last="Chemli">Jalel Chemli</name></author></analytic><series><title level="j">Gene</title><idno type="eISSN">1879-0038</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adolescent (MeSH)</term><term>Child (MeSH)</term><term>Child, Preschool (MeSH)</term><term>Consanguinity (MeSH)</term><term>DNA Mutational Analysis (MeSH)</term><term>Female (MeSH)</term><term>Genetic Association Studies (MeSH)</term><term>Haplotypes (MeSH)</term><term>Humans (MeSH)</term><term>Hyperoxaluria, Primary (diagnosis)</term><term>Hyperoxaluria, Primary (enzymology)</term><term>Hyperoxaluria, Primary (genetics)</term><term>Infant (MeSH)</term><term>Male (MeSH)</term><term>Molecular Diagnostic Techniques (MeSH)</term><term>Mutation, Missense (MeSH)</term><term>Polymorphism, Single Nucleotide (MeSH)</term><term>Transaminases (genetics)</term><term>Tunisia (MeSH)</term><term>Young Adult (MeSH)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Transaminases</term></keywords><keywords scheme="MESH" type="geographic" xml:lang="en"><term>Tunisia</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Hyperoxaluria, Primary</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Hyperoxaluria, Primary</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Hyperoxaluria, Primary</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adolescent</term><term>Child</term><term>Child, Preschool</term><term>Consanguinity</term><term>DNA Mutational Analysis</term><term>Female</term><term>Genetic Association Studies</term><term>Haplotypes</term><term>Humans</term><term>Infant</term><term>Male</term><term>Molecular Diagnostic Techniques</term><term>Mutation, Missense</term><term>Polymorphism, Single Nucleotide</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p><b>BACKGROUND</b></p><p>Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited metabolic disease, characterized by progressive kidney failure due to renal deposition of calcium oxalate. Mutations in the AGXT gene, encoding the liver-specific enzyme alanine glyoxylate aminotransferase, are responsible for the disease. We aimed to determine the mutational spectrum causing PH1 and to provide an accurate tool for diagnosis as well as for prenatal diagnosis in the affected families.</p></div><div type="abstract" xml:lang="en"><p><b>METHODS</b></p><p>Direct sequencing was used to detect mutations in the AGXT gene in DNA samples from 13 patients belonging to 12 Tunisian families.</p></div><div type="abstract" xml:lang="en"><p><b>RESULTS</b></p><p>Molecular analysis revealed five mutations causing PH1 in Tunisia. The mutations were identified along exons 1, 2, 4, 5 and 7. The most predominant mutations were the Maghrebian "p.I244T" and the Arabic "p.G190R". Furthermore, three other mutations characteristic of different ethnic groups were found in our study population. These results confirm the mutational heterogeneity related to PH1 in Tunisian population. All the mutations are in a homozygous state, reflecting the high impact of endogamy in our population.</p></div><div type="abstract" xml:lang="en"><p><b>CONCLUSION</b></p><p>Mutation analysis through DNA sequencing can provide a useful first line investigation for PH1. This identification could provide an accurate tool for prenatal diagnosis, genetic counseling and screen for potential presymptomatic individuals.</p></div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23810941</PMID><DateCompleted><Year>2013</Year><Month>10</Month><Day>22</Day></DateCompleted><DateRevised><Year>2013</Year><Month>08</Month><Day>06</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1879-0038</ISSN><JournalIssue CitedMedium="Internet"><Volume>527</Volume><Issue>1</Issue><PubDate><Year>2013</Year><Month>Sep</Month><Day>15</Day></PubDate></JournalIssue><Title>Gene</Title><ISOAbbreviation>Gene</ISOAbbreviation></Journal><ArticleTitle>Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.</ArticleTitle><Pagination><MedlinePgn>316-20</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1016/j.gene.2013.06.023</ELocationID><ELocationID EIdType="pii" ValidYN="Y">S0378-1119(13)00780-4</ELocationID><Abstract><AbstractText Label="BACKGROUND" NlmCategory="BACKGROUND">Primary hyperoxaluria type 1 (PH1) is an autosomal recessive inherited metabolic disease, characterized by progressive kidney failure due to renal deposition of calcium oxalate. Mutations in the AGXT gene, encoding the liver-specific enzyme alanine glyoxylate aminotransferase, are responsible for the disease. We aimed to determine the mutational spectrum causing PH1 and to provide an accurate tool for diagnosis as well as for prenatal diagnosis in the affected families.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">Direct sequencing was used to detect mutations in the AGXT gene in DNA samples from 13 patients belonging to 12 Tunisian families.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Molecular analysis revealed five mutations causing PH1 in Tunisia. The mutations were identified along exons 1, 2, 4, 5 and 7. The most predominant mutations were the Maghrebian "p.I244T" and the Arabic "p.G190R". Furthermore, three other mutations characteristic of different ethnic groups were found in our study population. These results confirm the mutational heterogeneity related to PH1 in Tunisian population. All the mutations are in a homozygous state, reflecting the high impact of endogamy in our population.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">Mutation analysis through DNA sequencing can provide a useful first line investigation for PH1. This identification could provide an accurate tool for prenatal diagnosis, genetic counseling and screen for potential presymptomatic individuals.</AbstractText><CopyrightInformation>© 2013 Elsevier B.V. All rights reserved.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Nagara</LastName><ForeName>Majdi</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institut Pasteur de Tunis, Laboratoire de Génomique Biomédicale et Oncogénétique, Tunis 1002, Tunisia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Tiar</LastName><ForeName>Afaf</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Ben Halim</LastName><ForeName>Nizar</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Ben Rhouma</LastName><ForeName>Faten</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Messaoud</LastName><ForeName>Olfa</ForeName><Initials>O</Initials></Author><Author ValidYN="Y"><LastName>Bouyacoub</LastName><ForeName>Yosra</ForeName><Initials>Y</Initials></Author><Author ValidYN="Y"><LastName>Kefi</LastName><ForeName>Rym</ForeName><Initials>R</Initials></Author><Author ValidYN="Y"><LastName>Hassayoun</LastName><ForeName>Saida</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Zouari</LastName><ForeName>Noura</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Ben Ammar</LastName><ForeName>Mohamed Slim</ForeName><Initials>MS</Initials></Author><Author ValidYN="Y"><LastName>Abdelhak</LastName><ForeName>Sonia</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Chemli</LastName><ForeName>Jalel</ForeName><Initials>J</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>06</Month><Day>25</Day></ArticleDate></Article><MedlineJournalInfo><Country>Netherlands</Country><MedlineTA>Gene</MedlineTA><NlmUniqueID>7706761</NlmUniqueID><ISSNLinking>0378-1119</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 2.6.1.-</RegistryNumber><NameOfSubstance UI="D000637">Transaminases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.6.1.44</RegistryNumber><NameOfSubstance UI="C019635">Alanine-glyoxylate transaminase</NameOfSubstance></Chemical></ChemicalList><SupplMeshList><SupplMeshName Type="Disease" UI="C536414">Primary hyperoxaluria type 1</SupplMeshName></SupplMeshList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000293" MajorTopicYN="N">Adolescent</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002648" MajorTopicYN="N">Child</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002675" MajorTopicYN="N">Child, Preschool</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D003241" MajorTopicYN="N">Consanguinity</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D004252" MajorTopicYN="N">DNA Mutational Analysis</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D056726" MajorTopicYN="N">Genetic Association Studies</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006239" MajorTopicYN="N">Haplotypes</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006960" MajorTopicYN="N">Hyperoxaluria, Primary</DescriptorName><QualifierName UI="Q000175" MajorTopicYN="N">diagnosis</QualifierName><QualifierName UI="Q000201" MajorTopicYN="N">enzymology</QualifierName><QualifierName UI="Q000235" 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Adult</DescriptorName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">AGT</Keyword><Keyword MajorTopicYN="N">AGT-Mi</Keyword><Keyword MajorTopicYN="N">CaOx</Keyword><Keyword MajorTopicYN="N">Decisional tree</Keyword><Keyword MajorTopicYN="N">Diagnosis</Keyword><Keyword MajorTopicYN="N">ESRD</Keyword><Keyword MajorTopicYN="N">HGMD</Keyword><Keyword MajorTopicYN="N">Historical event</Keyword><Keyword MajorTopicYN="N">Human Gene Mutation Database</Keyword><Keyword MajorTopicYN="N">NC</Keyword><Keyword MajorTopicYN="N">Nephrocalcinosis</Keyword><Keyword MajorTopicYN="N">PH1</Keyword><Keyword MajorTopicYN="N">Primary hyperoxaluria</Keyword><Keyword MajorTopicYN="N">Primary hyperoxaluria type 1</Keyword><Keyword MajorTopicYN="N">SNPs</Keyword><Keyword MajorTopicYN="N">alanine glyoxylate aminotransferase</Keyword><Keyword MajorTopicYN="N">calcium oxalate</Keyword><Keyword MajorTopicYN="N">end-stage renal disease</Keyword><Keyword MajorTopicYN="N">minor allele haplotype</Keyword><Keyword MajorTopicYN="N">nephrocalcinosis</Keyword><Keyword MajorTopicYN="N">pyridoxine</Keyword><Keyword MajorTopicYN="N">single nucleotide polymorphisms</Keyword><Keyword MajorTopicYN="N">vitamin B6</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>02</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>05</Month><Day>30</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>06</Month><Day>08</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>7</Month><Day>2</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>7</Month><Day>3</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2013</Year><Month>10</Month><Day>23</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">23810941</ArticleId><ArticleId IdType="pii">S0378-1119(13)00780-4</ArticleId><ArticleId IdType="doi">10.1016/j.gene.2013.06.023</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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