Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis
Identifieur interne : 000C90 ( Istex/Checkpoint ); précédent : 000C89; suivant : 000C91Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis
Auteurs : N. Molinari [France] ; I. Koné Paut [France] ; R. Manna [Italie] ; J. Demaille [France] ; J. P. Daures [France] ; I. Touitou [France]Source :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2003-10-01.
English descriptors
Abstract
We have conducted a segregation analysis in order to characterise the transmission of Behçet Disease (BD), a multifactorial condition with a strong genetic component. Complete information about BD status and pedigree was obtained on 104 probands from our database. We used the criteria of the International Study Group for BD (ISBD) to delineate the clinical status of the sibs: possible BD (patients meeting two criteria), or ascertained BD (patients meeting at least three criteria). A proband was defined as “paediatric” when he/she completed ISBD criteria before/by the age of 16 years. Families were distinguished as paediatric (n = 67) (ascertained through a paediatric proband), and non‐paediatric (n = 37) ones. An Expectation Maximization (EM) algorithm was used to estimate the Mendelian segregation ratio P in nuclear families (two parents and their offspring). The maximum likelihood estimate: P̂ = 0.248, calculated in the paediatric data set, was consistent with the theoretical value of P = ¼ for autosomal recessive inheritance, whereas the P̂ value was 0.08 when using the non‐paediatric data set. Our work provides the first evidence of genetic heterogeneity in BD, and of the existence of a Mendelian entity in the paediatric BD subgroup. Previous studies failed to show any simple mode of inheritance in BD, probably because they were performed on the whole BD population. © 2003 Wiley‐Liss, Inc.
Url:
DOI: 10.1002/ajmg.a.20136
Affiliations:
Links toward previous steps (curation, corpus...)
Links to Exploration step
ISTEX:909414856AFFA314D814029E29E98D9F8972F786Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title xml:lang="en">Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis</title><author><name sortKey="Molinari, N" sort="Molinari, N" uniqKey="Molinari N" first="N." last="Molinari">N. Molinari</name></author><author><name sortKey="Paut, I Kone" sort="Paut, I Kone" uniqKey="Paut I" first="I. Koné" last="Paut">I. Koné Paut</name></author><author><name sortKey="Manna, R" sort="Manna, R" uniqKey="Manna R" first="R." last="Manna">R. Manna</name></author><author><name sortKey="Demaille, J" sort="Demaille, J" uniqKey="Demaille J" first="J." last="Demaille">J. Demaille</name></author><author><name sortKey="Daures, J P" sort="Daures, J P" uniqKey="Daures J" first="J. P." last="Daures">J. P. Daures</name></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I." last="Touitou">I. Touitou</name></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:909414856AFFA314D814029E29E98D9F8972F786</idno><date when="2003" year="2003">2003</date><idno type="doi">10.1002/ajmg.a.20136</idno><idno type="url">https://api.istex.fr/document/909414856AFFA314D814029E29E98D9F8972F786/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">000882</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">000882</idno><idno type="wicri:Area/Istex/Curation">000882</idno><idno type="wicri:Area/Istex/Checkpoint">000C90</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Checkpoint">000C90</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en">Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis</title><author><name sortKey="Molinari, N" sort="Molinari, N" uniqKey="Molinari N" first="N." last="Molinari">N. Molinari</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biostatistiques, Epidémiologie et Santé Publique. IURC, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Paut, I Kone" sort="Paut, I Kone" uniqKey="Paut I" first="I. Koné" last="Paut">I. Koné Paut</name><affiliation wicri:level="1"><country xml:lang="fr">France</country><wicri:regionArea>Service de Pédiatrie, CHU Nord, Marseilles</wicri:regionArea><wicri:noRegion>Marseilles</wicri:noRegion><wicri:noRegion>Marseilles</wicri:noRegion></affiliation><affiliation></affiliation></author><author><name sortKey="Manna, R" sort="Manna, R" uniqKey="Manna R" first="R." last="Manna">R. Manna</name><affiliation wicri:level="3"><country xml:lang="fr">Italie</country><wicri:regionArea>Department of Internal Medicine, Catholic University, Rome</wicri:regionArea><placeName><settlement type="city">Rome</settlement><region nuts="2">Latium</region></placeName></affiliation></author><author><name sortKey="Demaille, J" sort="Demaille, J" uniqKey="Demaille J" first="J." last="Demaille">J. Demaille</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de génétique moléculaire et chromosomique, Hôpital Arnaud de Villeneuve, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Daures, J P" sort="Daures, J P" uniqKey="Daures J" first="J. P." last="Daures">J. P. Daures</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de Biostatistiques, Epidémiologie et Santé Publique. IURC, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author><author><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I." last="Touitou">I. Touitou</name><affiliation wicri:level="3"><country xml:lang="fr">France</country><wicri:regionArea>Laboratoire de génétique moléculaire et chromosomique, Hôpital Arnaud de Villeneuve, Montpellier</wicri:regionArea><placeName><region type="region">Occitanie (région administrative)</region><region type="old region">Languedoc-Roussillon</region><settlement type="city">Montpellier</settlement></placeName></affiliation></author></analytic><monogr></monogr><series><title level="j">American Journal of Medical Genetics Part A</title><title level="j" type="abbrev">Am. J. Med. Genet.</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2003-10-01">2003-10-01</date><biblScope unit="volume">122A</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="115">115</biblScope><biblScope unit="page" to="118">118</biblScope></imprint><idno type="ISSN">1552-4825</idno></series><idno type="istex">909414856AFFA314D814029E29E98D9F8972F786</idno><idno type="DOI">10.1002/ajmg.a.20136</idno><idno type="ArticleID">AJMG20136</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Behçet disease</term><term>autosomal</term><term>genetic</term><term>paediatric sub‐group</term><term>recessive</term><term>segregation analysis</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">We have conducted a segregation analysis in order to characterise the transmission of Behçet Disease (BD), a multifactorial condition with a strong genetic component. Complete information about BD status and pedigree was obtained on 104 probands from our database. We used the criteria of the International Study Group for BD (ISBD) to delineate the clinical status of the sibs: possible BD (patients meeting two criteria), or ascertained BD (patients meeting at least three criteria). A proband was defined as “paediatric” when he/she completed ISBD criteria before/by the age of 16 years. Families were distinguished as paediatric (n = 67) (ascertained through a paediatric proband), and non‐paediatric (n = 37) ones. An Expectation Maximization (EM) algorithm was used to estimate the Mendelian segregation ratio P in nuclear families (two parents and their offspring). The maximum likelihood estimate: P̂ = 0.248, calculated in the paediatric data set, was consistent with the theoretical value of P = ¼ for autosomal recessive inheritance, whereas the P̂ value was 0.08 when using the non‐paediatric data set. Our work provides the first evidence of genetic heterogeneity in BD, and of the existence of a Mendelian entity in the paediatric BD subgroup. Previous studies failed to show any simple mode of inheritance in BD, probably because they were performed on the whole BD population. © 2003 Wiley‐Liss, Inc.</div></front></TEI><affiliations><list><country><li>France</li><li>Italie</li></country><region><li>Languedoc-Roussillon</li><li>Latium</li><li>Occitanie (région administrative)</li></region><settlement><li>Montpellier</li><li>Rome</li></settlement></list><tree><country name="France"><region name="Occitanie (région administrative)"><name sortKey="Molinari, N" sort="Molinari, N" uniqKey="Molinari N" first="N." last="Molinari">N. Molinari</name></region><name sortKey="Daures, J P" sort="Daures, J P" uniqKey="Daures J" first="J. P." last="Daures">J. P. Daures</name><name sortKey="Demaille, J" sort="Demaille, J" uniqKey="Demaille J" first="J." last="Demaille">J. Demaille</name><name sortKey="Paut, I Kone" sort="Paut, I Kone" uniqKey="Paut I" first="I. Koné" last="Paut">I. Koné Paut</name><name sortKey="Touitou, I" sort="Touitou, I" uniqKey="Touitou I" first="I." last="Touitou">I. Touitou</name></country><country name="Italie"><region name="Latium"><name sortKey="Manna, R" sort="Manna, R" uniqKey="Manna R" first="R." last="Manna">R. Manna</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Sante/explor/ParkinsonFranceV1/Data/Istex/Checkpoint
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000C90 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Checkpoint/biblio.hfd -nk 000C90 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Sante
|area= ParkinsonFranceV1
|flux= Istex
|étape= Checkpoint
|type= RBID
|clé= ISTEX:909414856AFFA314D814029E29E98D9F8972F786
|texte= Identification of an autosomal recessive mode of inheritance in paediatric Behçet's families by segregation analysis
}}
| This area was generated with Dilib version V0.6.29. |  |