Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Identifieur interne : 000201 ( Main/Exploration ); précédent : 000200; suivant : 000202Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.
Auteurs : Majdi Nagara [Tunisie] ; 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.
Descripteurs français
- KwdFr :
- Adolescent (MeSH), Analyse de mutations d'ADN (MeSH), Consanguinité (MeSH), Enfant (MeSH), Enfant d'âge préscolaire (MeSH), Femelle (MeSH), Haplotypes (MeSH), Humains (MeSH), Hyperoxalurie primaire (diagnostic), Hyperoxalurie primaire (enzymologie), Hyperoxalurie primaire (génétique), Jeune adulte (MeSH), Mutation faux-sens (MeSH), Mâle (MeSH), Nourrisson (MeSH), Polymorphisme de nucléotide simple (MeSH), Techniques de diagnostic moléculaire (MeSH), Transaminases (génétique), Tunisie (MeSH), Études d'associations génétiques (MeSH).
- MESH :
- diagnostic : Hyperoxalurie primaire.
- enzymologie : Hyperoxalurie primaire.
- génétique : Hyperoxalurie primaire, Transaminases.
- Adolescent, Analyse de mutations d'ADN, Consanguinité, Enfant, Enfant d'âge préscolaire, Femelle, Haplotypes, Humains, Jeune adulte, Mutation faux-sens, Mâle, Nourrisson, Polymorphisme de nucléotide simple, Techniques de diagnostic moléculaire, Tunisie, Études d'associations génétiques.
- Wicri :
- geographic : Tunisie.
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
Affiliations:
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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></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><idno type="wicri:Area/PubMed/Curation">000613</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Curation">000613</idno><idno type="wicri:Area/PubMed/Checkpoint">000612</idno><idno type="wicri:explorRef" wicri:stream="Checkpoint" 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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="KwdFr" xml:lang="fr"><term>Adolescent (MeSH)</term><term>Analyse de mutations d'ADN (MeSH)</term><term>Consanguinité (MeSH)</term><term>Enfant (MeSH)</term><term>Enfant d'âge préscolaire (MeSH)</term><term>Femelle (MeSH)</term><term>Haplotypes (MeSH)</term><term>Humains (MeSH)</term><term>Hyperoxalurie primaire (diagnostic)</term><term>Hyperoxalurie primaire (enzymologie)</term><term>Hyperoxalurie primaire (génétique)</term><term>Jeune adulte (MeSH)</term><term>Mutation faux-sens (MeSH)</term><term>Mâle (MeSH)</term><term>Nourrisson (MeSH)</term><term>Polymorphisme de nucléotide simple (MeSH)</term><term>Techniques de diagnostic moléculaire (MeSH)</term><term>Transaminases (génétique)</term><term>Tunisie (MeSH)</term><term>Études d'associations génétiques (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="diagnostic" xml:lang="fr"><term>Hyperoxalurie primaire</term></keywords><keywords scheme="MESH" qualifier="enzymologie" xml:lang="fr"><term>Hyperoxalurie primaire</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" qualifier="génétique" xml:lang="fr"><term>Hyperoxalurie primaire</term><term>Transaminases</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><keywords scheme="MESH" xml:lang="fr"><term>Adolescent</term><term>Analyse de mutations d'ADN</term><term>Consanguinité</term><term>Enfant</term><term>Enfant d'âge préscolaire</term><term>Femelle</term><term>Haplotypes</term><term>Humains</term><term>Jeune adulte</term><term>Mutation faux-sens</term><term>Mâle</term><term>Nourrisson</term><term>Polymorphisme de nucléotide simple</term><term>Techniques de diagnostic moléculaire</term><term>Tunisie</term><term>Études d'associations génétiques</term></keywords><keywords scheme="Wicri" type="geographic" xml:lang="fr"><term>Tunisie</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><affiliations><list><country><li>Tunisie</li></country><region><li>Gouvernorat de Tunis</li></region><settlement><li>Tunis</li></settlement></list><tree><noCountry><name sortKey="Abdelhak, Sonia" sort="Abdelhak, Sonia" uniqKey="Abdelhak S" first="Sonia" last="Abdelhak">Sonia Abdelhak</name><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><name sortKey="Ben Halim, Nizar" sort="Ben Halim, Nizar" uniqKey="Ben Halim N" first="Nizar" last="Ben Halim">Nizar Ben Halim</name><name sortKey="Ben Rhouma, Faten" sort="Ben Rhouma, Faten" uniqKey="Ben Rhouma F" first="Faten" last="Ben Rhouma">Faten Ben Rhouma</name><name sortKey="Bouyacoub, Yosra" sort="Bouyacoub, Yosra" uniqKey="Bouyacoub Y" first="Yosra" last="Bouyacoub">Yosra Bouyacoub</name><name sortKey="Chemli, Jalel" sort="Chemli, Jalel" uniqKey="Chemli J" first="Jalel" last="Chemli">Jalel Chemli</name><name sortKey="Hassayoun, Saida" sort="Hassayoun, Saida" uniqKey="Hassayoun S" first="Saida" last="Hassayoun">Saida Hassayoun</name><name sortKey="Kefi, Rym" sort="Kefi, Rym" uniqKey="Kefi R" first="Rym" last="Kefi">Rym Kefi</name><name sortKey="Messaoud, Olfa" sort="Messaoud, Olfa" uniqKey="Messaoud O" first="Olfa" last="Messaoud">Olfa Messaoud</name><name sortKey="Tiar, Afaf" sort="Tiar, Afaf" uniqKey="Tiar A" first="Afaf" last="Tiar">Afaf Tiar</name><name sortKey="Zouari, Noura" sort="Zouari, Noura" uniqKey="Zouari N" first="Noura" last="Zouari">Noura Zouari</name></noCountry><country name="Tunisie"><region name="Gouvernorat de Tunis"><name sortKey="Nagara, Majdi" sort="Nagara, Majdi" uniqKey="Nagara M" first="Majdi" last="Nagara">Majdi Nagara</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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