Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Identifieur interne : 002461 ( Istex/Corpus ); précédent : 002460; suivant : 002462Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum
Auteurs : Denise P. Cavalcanti ; Celine Huber ; Kim-Hanh Le Quan Sang ; Geneviève Baujat ; Felicity Collins ; Anne-Lise Delezoide ; Nathalie Dagoneau ; Martine Le Merrer ; Jelena Martinovic ; Marcos Fernando S. Mello ; Michel Vekemans ; Arnold Munnich ; Valerie Cormier-DaireSource :
- Journal of Medical Genetics [ 0022-2593 ] ; 2011-02.
English descriptors
- KwdEn :
- Abnormal, Abnormal hips, Beemer, Brazilian northeast, Case report, Cilium, Cleft, Coding exons, Compound heterozygosity, Consanguineous families, Dysplasia, Dysplasia spectrum, Ethnic background, Exon, Fetus, Gene encoding, Genet, Growth plate, Haplotype analysis, Haplotype study, Hopital robert debre, Hypoplasia, Hypoplasia pubis, Inclusion criteria, Intestinal malrotation, Irregular metaphyses, Jeune, Jeune dysplasia, Jeune syndrome, Lethal form, Lethal forms, Lethal group, Long bone, Long bones, Majewski, Metaphyseal irregularity, Molecular basis, Multicystic kidneys, Mutation, Narrow thorax, Ndings, Necker hospital, Parental consanguinity, Partial loss, Phenotype, Polydactyly, Postaxial, Postaxial polydactyly, Preaxial, Preaxial polydactyly, Prenatal ultrasound examination, Pulmonary hypoplasia, Radiological, Radiological features, Radiological similarities, Recurrent sibs, Rib, Short bone, Short limbs, Short ribs, Short syndrome, Single mutation, Skeletal dysplasias, Small cities, Smooth ends, Syndrome, Thoracic, Trident, Trident appearance, Tubular bones, Typical radiological features, Verma.
- Teeft :
- Abnormal, Abnormal hips, Beemer, Brazilian northeast, Case report, Cilium, Cleft, Coding exons, Compound heterozygosity, Consanguineous families, Dysplasia, Dysplasia spectrum, Ethnic background, Exon, Fetus, Gene encoding, Genet, Growth plate, Haplotype analysis, Haplotype study, Hopital robert debre, Hypoplasia, Hypoplasia pubis, Inclusion criteria, Intestinal malrotation, Irregular metaphyses, Jeune, Jeune dysplasia, Jeune syndrome, Lethal form, Lethal forms, Lethal group, Long bone, Long bones, Majewski, Metaphyseal irregularity, Molecular basis, Multicystic kidneys, Mutation, Narrow thorax, Ndings, Necker hospital, Parental consanguinity, Partial loss, Phenotype, Polydactyly, Postaxial, Postaxial polydactyly, Preaxial, Preaxial polydactyly, Prenatal ultrasound examination, Pulmonary hypoplasia, Radiological, Radiological features, Radiological similarities, Recurrent sibs, Rib, Short bone, Short limbs, Short ribs, Short syndrome, Single mutation, Skeletal dysplasias, Small cities, Smooth ends, Syndrome, Thoracic, Trident, Trident appearance, Tubular bones, Typical radiological features, Verma.
Abstract
Background The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, IFT80, have been identified in 3/39 patients with Jeune dysplasia but no extraskeletal manifestation. Methods Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate IFT80 in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of IFT80 were directly sequenced. Results Using the haplotype approach for two families, the authors excluded the IFT80 region as a candidate for them. Direct sequencing of IFT80 in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype. Conclusions The findings show that mutations in IFT80 can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.
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DOI: 10.1136/jmg.2009.069468
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Cavalcanti</name><affiliation><mods:affiliation>Perinatal Genetic Program, Department of Medical Genetic, FCM, UNICAMP, Campinas, São Paulo, Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: denisepc@unicamp.br</mods:affiliation></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Le Quan Sang, Kim Hanh" sort="Le Quan Sang, Kim Hanh" uniqKey="Le Quan Sang K" first="Kim-Hanh" last="Le Quan Sang">Kim-Hanh Le Quan Sang</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation><mods:affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Delezoide, Anne Lise" sort="Delezoide, Anne Lise" uniqKey="Delezoide A" first="Anne-Lise" last="Delezoide">Anne-Lise Delezoide</name><affiliation><mods:affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Dagoneau, Nathalie" sort="Dagoneau, Nathalie" uniqKey="Dagoneau N" first="Nathalie" last="Dagoneau">Nathalie Dagoneau</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name><affiliation><mods:affiliation>Unit of Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Hôpital Necker-Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Mello, Marcos Fernando S" sort="Mello, Marcos Fernando S" uniqKey="Mello M" first="Marcos Fernando S" last="Mello">Marcos Fernando S. 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Cavalcanti</name><affiliation><mods:affiliation>Perinatal Genetic Program, Department of Medical Genetic, FCM, UNICAMP, Campinas, São Paulo, Brazil</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: denisepc@unicamp.br</mods:affiliation></affiliation></author><author><name sortKey="Huber, Celine" sort="Huber, Celine" uniqKey="Huber C" first="Celine" last="Huber">Celine Huber</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Le Quan Sang, Kim Hanh" sort="Le Quan Sang, Kim Hanh" uniqKey="Le Quan Sang K" first="Kim-Hanh" last="Le Quan Sang">Kim-Hanh Le Quan Sang</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Baujat, Genevieve" sort="Baujat, Genevieve" uniqKey="Baujat G" first="Geneviève" last="Baujat">Geneviève Baujat</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Collins, Felicity" sort="Collins, Felicity" uniqKey="Collins F" first="Felicity" last="Collins">Felicity Collins</name><affiliation><mods:affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia</mods:affiliation></affiliation></author><author><name sortKey="Delezoide, Anne Lise" sort="Delezoide, Anne Lise" uniqKey="Delezoide A" first="Anne-Lise" last="Delezoide">Anne-Lise Delezoide</name><affiliation><mods:affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Dagoneau, Nathalie" sort="Dagoneau, Nathalie" uniqKey="Dagoneau N" first="Nathalie" last="Dagoneau">Nathalie Dagoneau</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Le Merrer, Martine" sort="Le Merrer, Martine" uniqKey="Le Merrer M" first="Martine" last="Le Merrer">Martine Le Merrer</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Martinovic, Jelena" sort="Martinovic, Jelena" uniqKey="Martinovic J" first="Jelena" last="Martinovic">Jelena Martinovic</name><affiliation><mods:affiliation>Unit of Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Hôpital Necker-Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Mello, Marcos Fernando S" sort="Mello, Marcos Fernando S" uniqKey="Mello M" first="Marcos Fernando S" last="Mello">Marcos Fernando S. Mello</name><affiliation><mods:affiliation>Department of Pathology, FCM, UNICAMP, Campinas, São Paulo, Brazil</mods:affiliation></affiliation></author><author><name sortKey="Vekemans, Michel" sort="Vekemans, Michel" uniqKey="Vekemans M" first="Michel" last="Vekemans">Michel Vekemans</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Munnich, Arnold" sort="Munnich, Arnold" uniqKey="Munnich A" first="Arnold" last="Munnich">Arnold Munnich</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Cormier Daire, Valerie" sort="Cormier Daire, Valerie" uniqKey="Cormier Daire V" first="Valerie" last="Cormier-Daire">Valerie Cormier-Daire</name><affiliation><mods:affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2011-02">2011-02</date><biblScope unit="volume">48</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="88">88</biblScope></imprint><idno type="ISSN">0022-2593</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Abnormal</term><term>Abnormal hips</term><term>Beemer</term><term>Brazilian northeast</term><term>Case report</term><term>Cilium</term><term>Cleft</term><term>Coding exons</term><term>Compound heterozygosity</term><term>Consanguineous families</term><term>Dysplasia</term><term>Dysplasia spectrum</term><term>Ethnic background</term><term>Exon</term><term>Fetus</term><term>Gene encoding</term><term>Genet</term><term>Growth plate</term><term>Haplotype analysis</term><term>Haplotype study</term><term>Hopital robert debre</term><term>Hypoplasia</term><term>Hypoplasia pubis</term><term>Inclusion criteria</term><term>Intestinal malrotation</term><term>Irregular metaphyses</term><term>Jeune</term><term>Jeune dysplasia</term><term>Jeune syndrome</term><term>Lethal form</term><term>Lethal forms</term><term>Lethal group</term><term>Long bone</term><term>Long bones</term><term>Majewski</term><term>Metaphyseal irregularity</term><term>Molecular basis</term><term>Multicystic kidneys</term><term>Mutation</term><term>Narrow thorax</term><term>Ndings</term><term>Necker hospital</term><term>Parental consanguinity</term><term>Partial loss</term><term>Phenotype</term><term>Polydactyly</term><term>Postaxial</term><term>Postaxial polydactyly</term><term>Preaxial</term><term>Preaxial polydactyly</term><term>Prenatal ultrasound examination</term><term>Pulmonary hypoplasia</term><term>Radiological</term><term>Radiological features</term><term>Radiological similarities</term><term>Recurrent sibs</term><term>Rib</term><term>Short bone</term><term>Short limbs</term><term>Short ribs</term><term>Short syndrome</term><term>Single mutation</term><term>Skeletal dysplasias</term><term>Small cities</term><term>Smooth ends</term><term>Syndrome</term><term>Thoracic</term><term>Trident</term><term>Trident appearance</term><term>Tubular bones</term><term>Typical radiological features</term><term>Verma</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Abnormal</term><term>Abnormal hips</term><term>Beemer</term><term>Brazilian northeast</term><term>Case report</term><term>Cilium</term><term>Cleft</term><term>Coding exons</term><term>Compound heterozygosity</term><term>Consanguineous families</term><term>Dysplasia</term><term>Dysplasia spectrum</term><term>Ethnic background</term><term>Exon</term><term>Fetus</term><term>Gene encoding</term><term>Genet</term><term>Growth plate</term><term>Haplotype analysis</term><term>Haplotype study</term><term>Hopital robert debre</term><term>Hypoplasia</term><term>Hypoplasia pubis</term><term>Inclusion criteria</term><term>Intestinal malrotation</term><term>Irregular metaphyses</term><term>Jeune</term><term>Jeune dysplasia</term><term>Jeune syndrome</term><term>Lethal form</term><term>Lethal forms</term><term>Lethal group</term><term>Long bone</term><term>Long bones</term><term>Majewski</term><term>Metaphyseal irregularity</term><term>Molecular basis</term><term>Multicystic kidneys</term><term>Mutation</term><term>Narrow thorax</term><term>Ndings</term><term>Necker hospital</term><term>Parental consanguinity</term><term>Partial loss</term><term>Phenotype</term><term>Polydactyly</term><term>Postaxial</term><term>Postaxial polydactyly</term><term>Preaxial</term><term>Preaxial polydactyly</term><term>Prenatal ultrasound examination</term><term>Pulmonary hypoplasia</term><term>Radiological</term><term>Radiological features</term><term>Radiological similarities</term><term>Recurrent sibs</term><term>Rib</term><term>Short bone</term><term>Short limbs</term><term>Short ribs</term><term>Short syndrome</term><term>Single mutation</term><term>Skeletal dysplasias</term><term>Small cities</term><term>Smooth ends</term><term>Syndrome</term><term>Thoracic</term><term>Trident</term><term>Trident appearance</term><term>Tubular bones</term><term>Typical radiological features</term><term>Verma</term></keywords></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, IFT80, have been identified in 3/39 patients with Jeune dysplasia but no extraskeletal manifestation. Methods Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate IFT80 in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of IFT80 were directly sequenced. Results Using the haplotype approach for two families, the authors excluded the IFT80 region as a candidate for them. Direct sequencing of IFT80 in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype. Conclusions The findings show that mutations in IFT80 can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.</div></front></TEI><istex><corpusName>bmj</corpusName><keywords><teeft><json:string>mutation</json:string><json:string>jeune</json:string><json:string>polydactyly</json:string><json:string>genet</json:string><json:string>fetus</json:string><json:string>verma</json:string><json:string>hypoplasia</json:string><json:string>exon</json:string><json:string>majewski</json:string><json:string>radiological</json:string><json:string>beemer</json:string><json:string>phenotype</json:string><json:string>ndings</json:string><json:string>postaxial</json:string><json:string>dysplasia</json:string><json:string>trident</json:string><json:string>jeune dysplasia</json:string><json:string>preaxial</json:string><json:string>thoracic</json:string><json:string>cilium</json:string><json:string>trident appearance</json:string><json:string>pulmonary hypoplasia</json:string><json:string>preaxial polydactyly</json:string><json:string>short bone</json:string><json:string>postaxial polydactyly</json:string><json:string>short ribs</json:string><json:string>syndrome</json:string><json:string>rib</json:string><json:string>jeune syndrome</json:string><json:string>hypoplasia pubis</json:string><json:string>coding exons</json:string><json:string>lethal forms</json:string><json:string>dysplasia spectrum</json:string><json:string>consanguineous families</json:string><json:string>parental consanguinity</json:string><json:string>irregular metaphyses</json:string><json:string>growth plate</json:string><json:string>haplotype analysis</json:string><json:string>radiological features</json:string><json:string>short limbs</json:string><json:string>metaphyseal irregularity</json:string><json:string>abnormal hips</json:string><json:string>lethal form</json:string><json:string>cleft</json:string><json:string>abnormal</json:string><json:string>haplotype study</json:string><json:string>long bones</json:string><json:string>narrow thorax</json:string><json:string>tubular bones</json:string><json:string>smooth ends</json:string><json:string>typical radiological features</json:string><json:string>case report</json:string><json:string>prenatal ultrasound examination</json:string><json:string>ethnic background</json:string><json:string>intestinal malrotation</json:string><json:string>multicystic kidneys</json:string><json:string>brazilian northeast</json:string><json:string>small cities</json:string><json:string>long bone</json:string><json:string>skeletal dysplasias</json:string><json:string>inclusion criteria</json:string><json:string>necker hospital</json:string><json:string>molecular basis</json:string><json:string>recurrent sibs</json:string><json:string>radiological similarities</json:string><json:string>gene encoding</json:string><json:string>partial loss</json:string><json:string>lethal group</json:string><json:string>hopital robert debre</json:string><json:string>compound heterozygosity</json:string><json:string>single mutation</json:string><json:string>short syndrome</json:string></teeft></keywords><author><json:item><name>Denise P Cavalcanti</name><affiliations><json:string>Perinatal Genetic Program, Department of Medical Genetic, FCM, UNICAMP, Campinas, São Paulo, Brazil</json:string><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string><json:string>E-mail: denisepc@unicamp.br</json:string></affiliations></json:item><json:item><name>Celine Huber</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Kim-Hanh Le Quan Sang</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Geneviève Baujat</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Felicity Collins</name><affiliations><json:string>Western Sydney Genetics Program, Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia</json:string></affiliations></json:item><json:item><name>Anne-Lise Delezoide</name><affiliations><json:string>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, Paris, France</json:string></affiliations></json:item><json:item><name>Nathalie Dagoneau</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Martine Le Merrer</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Jelena Martinovic</name><affiliations><json:string>Unit of Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Hôpital Necker-Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Marcos Fernando S Mello</name><affiliations><json:string>Department of Pathology, FCM, UNICAMP, Campinas, São Paulo, Brazil</json:string></affiliations></json:item><json:item><name>Michel Vekemans</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Arnold Munnich</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Valerie Cormier-Daire</name><affiliations><json:string>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>Short rib-polydactyly dysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>IFT80</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>ciliopathy</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Verma-Naumoff dysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Jeune dysplasia</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>diagnosis</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>clinical genetics</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>molecular genetics</value></json:item></subject><articleId><json:string>jmedgenet69468</json:string></articleId><arkIstex>ark:/67375/NVC-WW359RR7-S</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><abstract>Background The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, IFT80, have been identified in 3/39 patients with Jeune dysplasia but no extraskeletal manifestation. Methods Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate IFT80 in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of IFT80 were directly sequenced. Results Using the haplotype approach for two families, the authors excluded the IFT80 region as a candidate for them. Direct sequencing of IFT80 in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype. Conclusions The findings show that mutations in IFT80 can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.</abstract><qualityIndicators><score>8.48</score><pdfWordCount>3696</pdfWordCount><pdfCharCount>25499</pdfCharCount><pdfVersion>1.4</pdfVersion><pdfPageCount>5</pdfPageCount><pdfPageSize>595.276 x 793.701 pts</pdfPageSize><refBibsNative>true</refBibsNative><abstractWordCount>232</abstractWordCount><abstractCharCount>1531</abstractCharCount><keywordCount>9</keywordCount></qualityIndicators><title>Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum</title><pmid><json:string>19648123</json:string></pmid><genre><json:string>research-article</json:string></genre><host><title>Journal of Medical Genetics</title><language><json:string>unknown</json:string></language><issn><json:string>0022-2593</json:string></issn><eissn><json:string>1468-6244</json:string></eissn><publisherId><json:string>jmg</json:string></publisherId><volume>48</volume><issue>2</issue><pages><first>88</first></pages><genre><json:string>journal</json:string></genre></host><namedEntities><unitex><date><json:string>1970s</json:string><json:string>2009-07-30</json:string></date><geogName></geogName><orgName><json:string>Brazil Correspondence</json:string><json:string>Brazily Brazilz Brazilx France France N Africa France Lebanon Senegal N Africa France N Africa N Africa Pakistan No No No No Yes Yes Yes Yes Yes No Yes Yes Yes Yes Yes</json:string><json:string>Robert Debre Hospital, Paris</json:string><json:string>Necker Hospital, Paris</json:string><json:string>Brazil, Hopital Necker, Paris, France, Hopital Robert Debre, Paris, France and Children</json:string><json:string>Department of Pathology, FCM, UNICAMP, Campinas, Sao</json:string><json:string>US Renal</json:string><json:string>Department of Histo-Embryology</json:string><json:string>Department of Genetics</json:string><json:string>Genetic Department of the Necker Hospital, and the Unit of Fetopathology of the Robert Debré Hospital</json:string><json:string>Department of Clinical Genetics, Children</json:string><json:string>Fapesp</json:string></orgName><orgName_funder><json:string>Fapesp</json:string></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Dr Mauricio</json:string><json:string>Michel Vekemans</json:string><json:string>Anne-Lise Delezoide</json:string><json:string>Martine Le Merrer</json:string><json:string>Of</json:string><json:string>Robert Debre</json:string><json:string>The</json:string><json:string>Denise</json:string><json:string>Nathalie Dagoneau</json:string><json:string>Jelena Martinovic</json:string><json:string>Clinic</json:string><json:string>Fetuses</json:string><json:string>Arnold Munnich</json:string><json:string>Valerie Cormier-Daire</json:string></persName><placeName><json:string>Foster City</json:string><json:string>Paris</json:string><json:string>Australia</json:string><json:string>Brazil</json:string><json:string>Campinas region</json:string><json:string>France</json:string><json:string>Campinas</json:string><json:string>Sydney</json:string></placeName><ref_url><json:string>http://genetics.bwh</json:string></ref_url><ref_bibl><json:string>Young et al</json:string><json:string>Majewski et al</json:string><json:string>Beales et al</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/NVC-WW359RR7-S</json:string></ark><categories><wos><json:string>1 - science</json:string><json:string>2 - genetics & heredity</json:string></wos><scienceMetrix><json:string>1 - health sciences</json:string><json:string>2 - biomedical research</json:string><json:string>3 - genetics & heredity</json:string></scienceMetrix><scopus><json:string>1 - Health Sciences</json:string><json:string>2 - Medicine</json:string><json:string>3 - Genetics(clinical)</json:string><json:string>1 - Life Sciences</json:string><json:string>2 - Biochemistry, Genetics and Molecular Biology</json:string><json:string>3 - Genetics</json:string></scopus><inist><json:string>1 - sciences appliquees, technologies et medecines</json:string><json:string>2 - sciences biologiques et medicales</json:string><json:string>3 - sciences medicales</json:string><json:string>4 - pathologie osteoarticulaire</json:string></inist></categories><publicationDate>2011</publicationDate><copyrightDate>2009</copyrightDate><doi><json:string>10.1136/jmg.2009.069468</json:string></doi><id>C531FE51896474F7A4BA6C32CE98B59D004FA3A7</id><score>1</score><fulltext><json:item><extension>pdf</extension><original>true</original><mimetype>application/pdf</mimetype><uri>https://api.istex.fr/document/C531FE51896474F7A4BA6C32CE98B59D004FA3A7/fulltext/pdf</uri></json:item><json:item><extension>zip</extension><original>false</original><mimetype>application/zip</mimetype><uri>https://api.istex.fr/document/C531FE51896474F7A4BA6C32CE98B59D004FA3A7/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/C531FE51896474F7A4BA6C32CE98B59D004FA3A7/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a">Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum</title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher scheme="https://publisher-list.data.istex.fr">BMJ Publishing Group Ltd</publisher><availability><licence><p>© 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</p></licence><p scheme="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-7M42M2QJ-2">bmj</p></availability><date>2009-07-30</date></publicationStmt><notesStmt><note type="research-article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</note><note type="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum</title><author xml:id="author-0000" corresp="yes"><persName><forename type="first">Denise P</forename><surname>Cavalcanti</surname></persName><email>denisepc@unicamp.br</email><affiliation>Perinatal Genetic Program, Department of Medical Genetic, FCM, UNICAMP, Campinas, São Paulo, Brazil</affiliation><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0001"><persName><forename type="first">Celine</forename><surname>Huber</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0002"><persName><forename type="first">Kim-Hanh</forename><surname>Le Quan Sang</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0003"><persName><forename type="first">Geneviève</forename><surname>Baujat</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0004"><persName><forename type="first">Felicity</forename><surname>Collins</surname></persName><affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia</affiliation></author><author xml:id="author-0005"><persName><forename type="first">Anne-Lise</forename><surname>Delezoide</surname></persName><affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, Paris, France</affiliation></author><author xml:id="author-0006"><persName><forename type="first">Nathalie</forename><surname>Dagoneau</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0007"><persName><forename type="first">Martine</forename><surname>Le Merrer</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0008"><persName><forename type="first">Jelena</forename><surname>Martinovic</surname></persName><affiliation>Unit of Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Hôpital Necker-Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0009"><persName><forename type="first">Marcos Fernando S</forename><surname>Mello</surname></persName><affiliation>Department of Pathology, FCM, UNICAMP, Campinas, São Paulo, Brazil</affiliation></author><author xml:id="author-0010"><persName><forename type="first">Michel</forename><surname>Vekemans</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0011"><persName><forename type="first">Arnold</forename><surname>Munnich</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><author xml:id="author-0012"><persName><forename type="first">Valerie</forename><surname>Cormier-Daire</surname></persName><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation></author><idno type="istex">C531FE51896474F7A4BA6C32CE98B59D004FA3A7</idno><idno type="ark">ark:/67375/NVC-WW359RR7-S</idno><idno type="DOI">10.1136/jmg.2009.069468</idno><idno type="href">jmedgenet-48-88.pdf</idno><idno type="article-id">jmedgenet69468</idno><idno type="PMID">19648123</idno><idno type="local">jmedgenet;48/2/88</idno></analytic><monogr><title level="j">Journal of Medical Genetics</title><title level="j" type="abbrev">J Med Genet</title><idno type="pISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><idno type="publisher-id">jmg</idno><idno type="PublisherID-hwp">jmedgenet</idno><idno type="PublisherID-nlm-ta">J Med Genet</idno><imprint><publisher>BMJ Publishing Group Ltd</publisher><date type="published" when="2011-02"></date><biblScope unit="volume">48</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="88">88</biblScope></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2009-07-30</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>Background The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, IFT80, have been identified in 3/39 patients with Jeune dysplasia but no extraskeletal manifestation. Methods Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate IFT80 in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of IFT80 were directly sequenced. Results Using the haplotype approach for two families, the authors excluded the IFT80 region as a candidate for them. Direct sequencing of IFT80 in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype. Conclusions The findings show that mutations in IFT80 can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.</p></abstract><textClass><keywords scheme="keyword"><list><head>keywords</head><item><term>Short rib-polydactyly dysplasia</term></item><item><term>IFT80</term></item><item><term>ciliopathy</term></item><item><term>Verma-Naumoff dysplasia</term></item><item><term>Jeune dysplasia</term></item><item><term>diagnosis</term></item><item><term>genetics</term></item><item><term>clinical genetics</term></item><item><term>molecular genetics</term></item></list></keywords></textClass></profileDesc><revisionDesc><change when="2009-07-30">Created</change><change when="2011-02">Published</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/C531FE51896474F7A4BA6C32CE98B59D004FA3A7/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus bmj" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="no"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Archiving and Interchange DTD v2.3 20070202//EN" URI="archivearticle.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="hwp">jmedgenet</journal-id><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-id journal-id-type="publisher-id">jmg</journal-id><journal-title>Journal of Medical Genetics</journal-title><abbrev-journal-title abbrev-type="publisher">J Med Genet</abbrev-journal-title><abbrev-journal-title>J Med Genet</abbrev-journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Publishing Group Ltd</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="publisher-id">jmedgenet69468</article-id><article-id pub-id-type="doi">10.1136/jmg.2009.069468</article-id><article-id pub-id-type="other">jmedgenet;48/2/88</article-id><article-id pub-id-type="other">jmedgenet;jmg.2009.069468</article-id><article-id pub-id-type="pmid">19648123</article-id><article-id pub-id-type="other">88</article-id><article-id pub-id-type="other">jmg.2009.069468</article-id><article-categories><subj-group subj-group-type="heading"><subject>Original article</subject></subj-group></article-categories><title-group><article-title>Mutation in <italic>IFT80</italic> in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum</article-title></title-group><contrib-group><contrib contrib-type="author" corresp="yes"><name><surname>Cavalcanti</surname><given-names>Denise P</given-names></name><xref ref-type="aff" rid="aff1">1</xref><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Huber</surname><given-names>Celine</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Le Quan Sang</surname><given-names>Kim-Hanh</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Baujat</surname><given-names>Geneviève</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Collins</surname><given-names>Felicity</given-names></name><xref ref-type="aff" rid="aff3">3</xref></contrib><contrib contrib-type="author"><name><surname>Delezoide</surname><given-names>Anne-Lise</given-names></name><xref ref-type="aff" rid="aff4">4</xref></contrib><contrib contrib-type="author"><name><surname>Dagoneau</surname><given-names>Nathalie</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Le Merrer</surname><given-names>Martine</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Martinovic</surname><given-names>Jelena</given-names></name><xref ref-type="aff" rid="aff5">5</xref></contrib><contrib contrib-type="author"><name><surname>Mello</surname><given-names>Marcos Fernando S</given-names></name><xref ref-type="aff" rid="aff6">6</xref></contrib><contrib contrib-type="author"><name><surname>Vekemans</surname><given-names>Michel</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Munnich</surname><given-names>Arnold</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib><contrib contrib-type="author"><name><surname>Cormier-Daire</surname><given-names>Valerie</given-names></name><xref ref-type="aff" rid="aff2">2</xref></contrib></contrib-group><aff id="aff1"><label>1</label>Perinatal Genetic Program, Department of Medical Genetic, FCM, UNICAMP, Campinas, São Paulo, Brazil</aff><aff id="aff2"><label>2</label>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</aff><aff id="aff3"><label>3</label>Western Sydney Genetics Program, Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia</aff><aff id="aff4"><label>4</label>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, Paris, France</aff><aff id="aff5"><label>5</label>Unit of Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Hôpital Necker-Enfants Malades, Paris, France</aff><aff id="aff6"><label>6</label>Department of Pathology, FCM, UNICAMP, Campinas, São Paulo, Brazil</aff><author-notes><corresp><label>Correspondence to</label> Prof Denise P Cavalcanti, Programa de Genética Perinatal, Depto. de Genética Médica, FCM, UNICAMP, CP 6111, 13081-970, Campinas, SP Brazil; <email>denisepc@unicamp.br</email> <email>denisepcavalcanti@gmail.com</email></corresp></author-notes><pub-date pub-type="epub-original"><day>30</day><month>7</month><year>2009</year></pub-date><pub-date pub-type="ppub"><month>2</month><year>2011</year></pub-date><pub-date pub-type="epub"><day>30</day><month>7</month><year>2009</year></pub-date><volume>48</volume><volume-id pub-id-type="other">48</volume-id><volume-id pub-id-type="other">48</volume-id><issue>2</issue><issue-id pub-id-type="other">jmedgenet;48/2</issue-id><issue-id pub-id-type="other">2</issue-id><issue-id pub-id-type="other">48/2</issue-id><fpage>88</fpage><history><date date-type="received"><day>18</day><month>5</month><year>2009</year></date><date date-type="rev-recd"><day>1</day><month>7</month><year>2009</year></date><date date-type="accepted"><day>2</day><month>7</month><year>2009</year></date></history><permissions><copyright-statement>© 2011, Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.</copyright-statement><copyright-year>2011</copyright-year></permissions><self-uri content-type="pdf" xlink:role="full-text" xlink:href="jmedgenet-48-88.pdf"></self-uri><abstract><sec><title>Background</title><p>The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, <italic>IFT80</italic>, have been identified in 3/39 patients with Jeune dysplasia but no extraskeletal manifestation.</p></sec><sec><title>Methods</title><p>Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate <italic>IFT80</italic> in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of <italic>IFT80</italic> were directly sequenced.</p></sec><sec><title>Results</title><p>Using the haplotype approach for two families, the authors excluded the <italic>IFT80</italic> region as a candidate for them. Direct sequencing of <italic>IFT80</italic> in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype.</p></sec><sec><title>Conclusions</title><p>The findings show that mutations in <italic>IFT80</italic> can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.</p></sec></abstract><kwd-group><kwd>Short rib-polydactyly dysplasia</kwd><kwd><italic>IFT80</italic></kwd><kwd>ciliopathy</kwd><kwd>Verma-Naumoff dysplasia</kwd><kwd>Jeune dysplasia</kwd><kwd>diagnosis</kwd><kwd>genetics</kwd><kwd>clinical genetics</kwd><kwd>molecular genetics</kwd></kwd-group></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum</title></titleInfo><name type="personal" displayLabel="corresp"><namePart type="given">Denise P</namePart><namePart type="family">Cavalcanti</namePart><affiliation>Perinatal Genetic Program, Department of Medical Genetic, FCM, UNICAMP, Campinas, São Paulo, Brazil</affiliation><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><affiliation>E-mail: denisepc@unicamp.br</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Celine</namePart><namePart type="family">Huber</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Kim-Hanh</namePart><namePart type="family">Le Quan Sang</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Geneviève</namePart><namePart type="family">Baujat</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Felicity</namePart><namePart type="family">Collins</namePart><affiliation>Western Sydney Genetics Program, Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Anne-Lise</namePart><namePart type="family">Delezoide</namePart><affiliation>Service de Biologie de Développement, Université Paris Diderot, Hôpital Robert Debré, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Nathalie</namePart><namePart type="family">Dagoneau</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Martine</namePart><namePart type="family">Le Merrer</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Jelena</namePart><namePart type="family">Martinovic</namePart><affiliation>Unit of Fetal Pathology, Department of Histo-Embryology and Cytogenetics, Hôpital Necker-Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Marcos Fernando S</namePart><namePart type="family">Mello</namePart><affiliation>Department of Pathology, FCM, UNICAMP, Campinas, São Paulo, Brazil</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Michel</namePart><namePart type="family">Vekemans</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Arnold</namePart><namePart type="family">Munnich</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Valerie</namePart><namePart type="family">Cormier-Daire</namePart><affiliation>Department of Genetics, INSERM U 781, Université Paris Descartes, AP-HP, Hôpital Necker Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-1JC4F85T-7">research-article</genre><originInfo><publisher>BMJ Publishing Group Ltd</publisher><dateIssued encoding="w3cdtf">2011-02</dateIssued><dateCreated encoding="w3cdtf">2009-07-30</dateCreated><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><abstract>Background The lethal group of short-rib polydactyly (SRP) includes type I (Saldino-Noonan; MIM 263530), type II (Majewski; MIM 263520), type III (Verma-Naumoff; MIM 263510) and type IV (Beemer-Langer; MIM 269860). Jeune and Ellis-van Creveld dysplasias also used to be classified in the SRP group. Recently, mutations in a gene encoding a protein involved in intraflagellar transport, IFT80, have been identified in 3/39 patients with Jeune dysplasia but no extraskeletal manifestation. Methods Because of clinical and radiological similarities between Jeune dysplasia and the other lethal types of SRP, the authors decided to investigate IFT80 in a cohort of fetuses with the lethal forms of SRP (Majewski, Verma-Naumoff and Beemer-Langer) and antenatally diagnosed cases of Jeune dysplasia. Fifteen fetuses were identified. A double-molecular approach was adopted. For consanguineous families and for those with recurrent sibs, a haplotype analysis around the gene locus was first performed, and, for the others, all the coding exons of IFT80 were directly sequenced. Results Using the haplotype approach for two families, the authors excluded the IFT80 region as a candidate for them. Direct sequencing of IFT80 in the other 13 cases showed a G-to-C transversion in exon 8 (G241R) in only one SRP case closely related to the type III phenotype. Conclusions The findings show that mutations in IFT80 can also be responsible for a lethal form of SRP and provide the molecular basis for the Jeune-Verma-Naumoff dysplasia spectrum.</abstract><subject><genre>keywords</genre><topic>Short rib-polydactyly dysplasia</topic><topic>IFT80</topic><topic>ciliopathy</topic><topic>Verma-Naumoff dysplasia</topic><topic>Jeune dysplasia</topic><topic>diagnosis</topic><topic>genetics</topic><topic>clinical genetics</topic><topic>molecular genetics</topic></subject><relatedItem type="host"><titleInfo><title>Journal of Medical Genetics</title></titleInfo><titleInfo type="abbreviated"><title>J Med Genet</title></titleInfo><genre type="journal" authority="ISTEX" authorityURI="https://publication-type.data.istex.fr" valueURI="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</genre><identifier type="ISSN">0022-2593</identifier><identifier type="eISSN">1468-6244</identifier><identifier type="PublisherID">jmg</identifier><identifier type="PublisherID-hwp">jmedgenet</identifier><identifier type="PublisherID-nlm-ta">J Med Genet</identifier><part><date>2011</date><detail type="volume"><caption>vol.</caption><number>48</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>88</start></extent></part></relatedItem><identifier type="istex">C531FE51896474F7A4BA6C32CE98B59D004FA3A7</identifier><identifier type="ark">ark:/67375/NVC-WW359RR7-S</identifier><identifier type="DOI">10.1136/jmg.2009.069468</identifier><identifier type="href">jmedgenet-48-88.pdf</identifier><identifier type="ArticleID">jmedgenet69468</identifier><identifier type="PMID">19648123</identifier><identifier type="local">jmedgenet;48/2/88</identifier><accessCondition type="use and reproduction" contentType="copyright">© 2011, Published by the BMJ Publishing Group Limited. 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