IMPAD1 mutations in two Catel‐Manzke like patients
Identifieur interne : 001614 ( Istex/Corpus ); précédent : 001613; suivant : 001615IMPAD1 mutations in two Catel‐Manzke like patients
Auteurs : Mathilde Nizon ; Yasemin Alanay ; Beyhan Tuysuz ; Pelin Ozlem Simsek Kiper ; David Geneviève ; David Sillence ; Celine Huber ; Arnold Munnich ; Prof. Valérie Cormier-DaireSource :
- American Journal of Medical Genetics Part A [ 1552-4825 ] ; 2012-09.
English descriptors
- KwdEn :
- Additional features, Anomaly, Autosomal recessive inheritance, Cant1, Carpal, Carpal bone, Carpal synostosis, Cleft, Cleft palate, Desbuquois, Desbuquois dysplasia, Desbuquois dysplasia type, Dislocation, Dysplasia, Foot anomalies, Genet, Genet part, Gpapp type, Hand anomalies, Hyperlaxity, Hyperphalangism, Impad1, Impad1 mutations, Inositol monophosphatase domain, Joint dislocations, Joint hyperlaxity, Knee hyperlaxity, Micrognathia, Mutation, Ngers, Palate, Pectus excavatum, Proximal femur, Radiological, Radiological features, Short stature, Syndrome, Synostosis.
- Teeft :
- Additional features, Anomaly, Autosomal recessive inheritance, Cant1, Carpal, Carpal bone, Carpal synostosis, Cleft, Cleft palate, Desbuquois, Desbuquois dysplasia, Desbuquois dysplasia type, Dislocation, Dysplasia, Foot anomalies, Genet, Genet part, Gpapp type, Hand anomalies, Hyperlaxity, Hyperphalangism, Impad1, Impad1 mutations, Inositol monophosphatase domain, Joint dislocations, Joint hyperlaxity, Knee hyperlaxity, Micrognathia, Mutation, Ngers, Palate, Pectus excavatum, Proximal femur, Radiological, Radiological features, Short stature, Syndrome, Synostosis.
Abstract
Catel–Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel–Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium‐activated nucleotidase 1) mutations and also with “chondrodysplasia with joint dislocations, gPAPP type” due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen CANT1 and IMPAD1 in Catel–Manzke patients. Three patients were diagnosed as classical Catel–Manzke syndrome and two as Catel–Manzke like patients, based on the presence of additional features. We identified two homozygous loss‐of‐function IMPAD1 mutations in the two Catel–Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel–Manzke and additional features. © 2012 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ajmg.a.35504
Links to Exploration step
ISTEX:75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2Le document en format XML
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sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name><affiliation><mods:affiliation>Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey</mods:affiliation></affiliation></author><author><name sortKey="Kiper, Pelin Ozlem Simsek" sort="Kiper, Pelin Ozlem Simsek" uniqKey="Kiper P" first="Pelin Ozlem Simsek" last="Kiper">Pelin Ozlem Simsek Kiper</name><affiliation><mods:affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</mods:affiliation></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation><mods:affiliation>Department of Medical Genetics, CHRU Montpellier, Montpellier 1 University, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation><mods:affiliation>Department of Genetic Medicine, University of Sydney, New South Wales, Australia</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>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, 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>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Cormier Aire, Prof Valerie" sort="Cormier Aire, Prof Valerie" uniqKey="Cormier Aire P" first="Prof. Valérie" last="Cormier-Daire">Prof. Valérie Cormier-Daire</name><affiliation><mods:affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: valerie.cormier‐daire@inserm.fr</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Département de Génétique, INSERM U781, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2</idno><date when="2012" year="2012">2012</date><idno type="doi">10.1002/ajmg.a.35504</idno><idno type="url">https://api.istex.fr/document/75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001614</idno><idno type="wicri:explorRef" wicri:stream="Istex" wicri:step="Corpus" wicri:corpus="ISTEX">001614</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a" type="main" xml:lang="en"><hi rend="italic">IMPAD1</hi> mutations in two Catel‐Manzke like patients<ref type="note" target="#fn1"></ref><ref type="note" target="#fn2"></ref></title><author><name sortKey="Nizon, Mathilde" sort="Nizon, Mathilde" uniqKey="Nizon M" first="Mathilde" last="Nizon">Mathilde Nizon</name><affiliation><mods:affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Alanay, Yasemin" sort="Alanay, Yasemin" uniqKey="Alanay Y" first="Yasemin" last="Alanay">Yasemin Alanay</name><affiliation><mods:affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</mods:affiliation></affiliation><affiliation><mods:affiliation>Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey</mods:affiliation></affiliation></author><author><name sortKey="Tuysuz, Beyhan" sort="Tuysuz, Beyhan" uniqKey="Tuysuz B" first="Beyhan" last="Tuysuz">Beyhan Tuysuz</name><affiliation><mods:affiliation>Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey</mods:affiliation></affiliation></author><author><name sortKey="Kiper, Pelin Ozlem Simsek" sort="Kiper, Pelin Ozlem Simsek" uniqKey="Kiper P" first="Pelin Ozlem Simsek" last="Kiper">Pelin Ozlem Simsek Kiper</name><affiliation><mods:affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</mods:affiliation></affiliation></author><author><name sortKey="Genevieve, David" sort="Genevieve, David" uniqKey="Genevieve D" first="David" last="Geneviève">David Geneviève</name><affiliation><mods:affiliation>Department of Medical Genetics, CHRU Montpellier, Montpellier 1 University, Montpellier, France</mods:affiliation></affiliation></author><author><name sortKey="Sillence, David" sort="Sillence, David" uniqKey="Sillence D" first="David" last="Sillence">David Sillence</name><affiliation><mods:affiliation>Department of Genetic Medicine, University of Sydney, New South Wales, Australia</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>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, 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>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation></author><author><name sortKey="Cormier Aire, Prof Valerie" sort="Cormier Aire, Prof Valerie" uniqKey="Cormier Aire P" first="Prof. Valérie" last="Cormier-Daire">Prof. Valérie Cormier-Daire</name><affiliation><mods:affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: valerie.cormier‐daire@inserm.fr</mods:affiliation></affiliation><affiliation><mods:affiliation>Correspondence address: Département de Génétique, INSERM U781, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="ISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><imprint><biblScope unit="vol">158A</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="2183">2183</biblScope><biblScope unit="page" to="2187">2187</biblScope><biblScope unit="page-count">5</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-09">2012-09</date></imprint><idno type="ISSN">1552-4825</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">1552-4825</idno></seriesStmt></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Additional features</term><term>Anomaly</term><term>Autosomal recessive inheritance</term><term>Cant1</term><term>Carpal</term><term>Carpal bone</term><term>Carpal synostosis</term><term>Cleft</term><term>Cleft palate</term><term>Desbuquois</term><term>Desbuquois dysplasia</term><term>Desbuquois dysplasia type</term><term>Dislocation</term><term>Dysplasia</term><term>Foot anomalies</term><term>Genet</term><term>Genet part</term><term>Gpapp type</term><term>Hand anomalies</term><term>Hyperlaxity</term><term>Hyperphalangism</term><term>Impad1</term><term>Impad1 mutations</term><term>Inositol monophosphatase domain</term><term>Joint dislocations</term><term>Joint hyperlaxity</term><term>Knee hyperlaxity</term><term>Micrognathia</term><term>Mutation</term><term>Ngers</term><term>Palate</term><term>Pectus excavatum</term><term>Proximal femur</term><term>Radiological</term><term>Radiological features</term><term>Short stature</term><term>Syndrome</term><term>Synostosis</term></keywords><keywords scheme="Teeft" xml:lang="en"><term>Additional features</term><term>Anomaly</term><term>Autosomal recessive inheritance</term><term>Cant1</term><term>Carpal</term><term>Carpal bone</term><term>Carpal synostosis</term><term>Cleft</term><term>Cleft palate</term><term>Desbuquois</term><term>Desbuquois dysplasia</term><term>Desbuquois dysplasia type</term><term>Dislocation</term><term>Dysplasia</term><term>Foot anomalies</term><term>Genet</term><term>Genet part</term><term>Gpapp type</term><term>Hand anomalies</term><term>Hyperlaxity</term><term>Hyperphalangism</term><term>Impad1</term><term>Impad1 mutations</term><term>Inositol monophosphatase domain</term><term>Joint dislocations</term><term>Joint hyperlaxity</term><term>Knee hyperlaxity</term><term>Micrognathia</term><term>Mutation</term><term>Ngers</term><term>Palate</term><term>Pectus excavatum</term><term>Proximal femur</term><term>Radiological</term><term>Radiological features</term><term>Short stature</term><term>Syndrome</term><term>Synostosis</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Catel–Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel–Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium‐activated nucleotidase 1) mutations and also with “chondrodysplasia with joint dislocations, gPAPP type” due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen CANT1 and IMPAD1 in Catel–Manzke patients. Three patients were diagnosed as classical Catel–Manzke syndrome and two as Catel–Manzke like patients, based on the presence of additional features. We identified two homozygous loss‐of‐function IMPAD1 mutations in the two Catel–Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel–Manzke and additional features. © 2012 Wiley Periodicals, Inc.</div></front></TEI><istex><corpusName>wiley</corpusName><keywords><teeft><json:string>impad1</json:string><json:string>mutation</json:string><json:string>carpal</json:string><json:string>desbuquois</json:string><json:string>cleft palate</json:string><json:string>cant1</json:string><json:string>genet</json:string><json:string>micrognathia</json:string><json:string>radiological</json:string><json:string>ngers</json:string><json:string>synostosis</json:string><json:string>dislocation</json:string><json:string>dysplasia</json:string><json:string>impad1 mutations</json:string><json:string>hyperphalangism</json:string><json:string>joint dislocations</json:string><json:string>hyperlaxity</json:string><json:string>radiological features</json:string><json:string>anomaly</json:string><json:string>desbuquois dysplasia</json:string><json:string>carpal synostosis</json:string><json:string>syndrome</json:string><json:string>foot anomalies</json:string><json:string>autosomal recessive inheritance</json:string><json:string>short stature</json:string><json:string>proximal femur</json:string><json:string>carpal bone</json:string><json:string>genet part</json:string><json:string>inositol monophosphatase domain</json:string><json:string>additional features</json:string><json:string>cleft</json:string><json:string>palate</json:string><json:string>hand anomalies</json:string><json:string>desbuquois dysplasia type</json:string><json:string>joint hyperlaxity</json:string><json:string>pectus excavatum</json:string><json:string>knee hyperlaxity</json:string><json:string>gpapp type</json:string></teeft></keywords><author><json:item><name>Mathilde Nizon</name><affiliations><json:string>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Yasemin Alanay</name><affiliations><json:string>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</json:string><json:string>Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey</json:string></affiliations></json:item><json:item><name>Beyhan Tuysuz</name><affiliations><json:string>Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey</json:string></affiliations></json:item><json:item><name>Pelin Ozlem Simsek Kiper</name><affiliations><json:string>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</json:string></affiliations></json:item><json:item><name>David Geneviève</name><affiliations><json:string>Department of Medical Genetics, CHRU Montpellier, Montpellier 1 University, Montpellier, France</json:string></affiliations></json:item><json:item><name>David Sillence</name><affiliations><json:string>Department of Genetic Medicine, University of Sydney, New South Wales, Australia</json:string></affiliations></json:item><json:item><name>Celine Huber</name><affiliations><json:string>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Arnold Munnich</name><affiliations><json:string>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</json:string></affiliations></json:item><json:item><name>Prof. Valérie Cormier‐Daire</name><affiliations><json:string>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</json:string><json:string>E-mail: valerie.cormier‐daire@inserm.fr</json:string><json:string>Correspondence address: Département de Génétique, INSERM U781, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.</json:string></affiliations></json:item></author><subject><json:item><lang><json:string>eng</json:string></lang><value>autosomal recessive inheritance</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>Catel–Manzke</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>cleft palate</value></json:item><json:item><lang><json:string>eng</json:string></lang><value>IMPAD1</value></json:item></subject><articleId><json:string>AJMG35504</json:string></articleId><arkIstex>ark:/67375/WNG-0M1L5CPC-3</arkIstex><language><json:string>eng</json:string></language><originalGenre><json:string>article</json:string></originalGenre><abstract>Catel–Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel–Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium‐activated nucleotidase 1) mutations and also with “chondrodysplasia with joint dislocations, gPAPP type” due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen CANT1 and IMPAD1 in Catel–Manzke patients. Three patients were diagnosed as classical Catel–Manzke syndrome and two as Catel–Manzke like patients, based on the presence of additional features. We identified two homozygous loss‐of‐function IMPAD1 mutations in the two Catel–Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel–Manzke and additional features. © 2012 Wiley Periodicals, Inc.</abstract><qualityIndicators><refBibsNative>true</refBibsNative><abstractWordCount>217</abstractWordCount><abstractCharCount>1604</abstractCharCount><keywordCount>4</keywordCount><score>7.035</score><pdfWordCount>2431</pdfWordCount><pdfCharCount>16997</pdfCharCount><pdfVersion>1.3</pdfVersion><pdfPageCount>5</pdfPageCount><pdfPageSize>594 x 792 pts</pdfPageSize></qualityIndicators><title>IMPAD1 mutations in two Catel‐Manzke like patients</title><pmid><json:string>22887726</json:string></pmid><genre><json:string>article</json:string></genre><host><title>American Journal of Medical Genetics Part A</title><language><json:string>unknown</json:string></language><doi><json:string>10.1002/(ISSN)1552-4833</json:string></doi><issn><json:string>1552-4825</json:string></issn><eissn><json:string>1552-4833</json:string></eissn><publisherId><json:string>AJMG</json:string></publisherId><volume>158A</volume><issue>9</issue><pages><first>2183</first><last>2187</last><total>5</total></pages><genre><json:string>journal</json:string></genre><subject><json:item><value>Research Article</value></json:item></subject></host><namedEntities><unitex><date><json:string>2012</json:string></date><geogName></geogName><orgName><json:string>Division of Genetics</json:string><json:string>Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey</json:string><json:string>Ihsan Dogramaci Children’s Hospital, Ankara, Turkey Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey</json:string><json:string>AMERICAN JOURNAL OF MEDICAL GENETICS PART A FIG</json:string><json:string>France Department of Genetic Medicine, University of Sydney, New South Wales, Australia</json:string><json:string>Yes India Deceased</json:string><json:string>No India/Korea</json:string><json:string>Hacettepe University</json:string><json:string>AMERICAN JOURNAL OF MEDICAL GENETICS PART A</json:string><json:string>Department of Medical Genetics, CHRU Montpellier, Montpellier</json:string><json:string>Wiley Periodicals, Inc</json:string></orgName><orgName_funder></orgName_funder><orgName_provider></orgName_provider><persName><json:string>Paris Cit</json:string><json:string>David Genevive</json:string><json:string>Paris Cedex</json:string><json:string>Radiological</json:string><json:string>David Sillence</json:string><json:string>Valrie Cormier-Daire</json:string><json:string>I. Clinical</json:string><json:string>Yasemin Alanay</json:string><json:string>Additional</json:string><json:string>Paris Descartes</json:string><json:string>Recruitment</json:string><json:string>Arnold Munnich</json:string><json:string>Celine Huber</json:string><json:string>Ozlem Simsek</json:string><json:string>Clinical</json:string></persName><placeName><json:string>Montpellier</json:string><json:string>Germany</json:string><json:string>Turkey</json:string><json:string>York</json:string><json:string>France</json:string></placeName><ref_url></ref_url><ref_bibl><json:string>Faden et al., 2010</json:string><json:string>Kiper et al. [2011]</json:string><json:string>Kiper et al., 2011</json:string><json:string>Thompson et al., 1986</json:string><json:string>Manzke et al., 2008</json:string><json:string>Frederick et al., 2008</json:string><json:string>Vissers et al., 2011</json:string><json:string>Vissers et al.</json:string><json:string>Wilson et al., 1993</json:string><json:string>Warman et al., 2011</json:string><json:string>Furuichi et al., 2011</json:string><json:string>Laccone et al., 2011</json:string><json:string>Huber et al., 2009</json:string><json:string>Le Merrer et al., 1991</json:string><json:string>Kapoor et al., 2011</json:string><json:string>Kiper et al.</json:string></ref_bibl><bibl></bibl></unitex></namedEntities><ark><json:string>ark:/67375/WNG-0M1L5CPC-3</json:string></ark><categories><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 - 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target="#fn2"></ref></title></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><availability><licence>Copyright © 2012 Wiley Periodicals, Inc.</licence></availability><date type="published" when="2012-09"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main" xml:lang="en"><hi rend="italic">IMPAD1</hi> mutations in two Catel‐Manzke like patients<ref type="note" target="#fn1"></ref><ref type="note" target="#fn2"></ref></title><author xml:id="author-0000"><persName><forename type="first">Mathilde</forename><surname>Nizon</surname></persName><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0001"><persName><forename type="first">Yasemin</forename><surname>Alanay</surname></persName><affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey<address><country key="TR"></country></address></affiliation><affiliation>Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey<address><country key="TR"></country></address></affiliation></author><author xml:id="author-0002"><persName><forename type="first">Beyhan</forename><surname>Tuysuz</surname></persName><affiliation>Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey<address><country key="TR"></country></address></affiliation></author><author xml:id="author-0003"><persName><forename type="first">Pelin Ozlem Simsek</forename><surname>Kiper</surname></persName><affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey<address><country key="TR"></country></address></affiliation></author><author xml:id="author-0004"><persName><forename type="first">David</forename><surname>Geneviève</surname></persName><affiliation>Department of Medical Genetics, CHRU Montpellier, Montpellier 1 University, Montpellier, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">David</forename><surname>Sillence</surname></persName><affiliation>Department of Genetic Medicine, University of Sydney, New South Wales, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0006"><persName><forename type="first">Celine</forename><surname>Huber</surname></persName><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0007"><persName><forename type="first">Arnold</forename><surname>Munnich</surname></persName><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation></author><author xml:id="author-0008" role="corresp"><persName><forename type="first">Prof. Valérie</forename><surname>Cormier‐Daire</surname></persName><email>valerie.cormier‐daire@inserm.fr</email><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France<address><country key="FR"></country></address></affiliation><affiliation>Département de Génétique, INSERM U781, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.</affiliation></author><idno type="istex">75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2</idno><idno type="ark">ark:/67375/WNG-0M1L5CPC-3</idno><idno type="DOI">10.1002/ajmg.a.35504</idno><idno type="unit">AJMG35504</idno><idno type="toTypesetVersion">file:AJMG.AJMG35504.pdf</idno></analytic><monogr><title level="j" type="main">American Journal of Medical Genetics Part A</title><title level="j" type="alt">AMERICAN JOURNAL OF MEDICAL GENETICS</title><idno type="pISSN">1552-4825</idno><idno type="eISSN">1552-4833</idno><idno type="book-DOI">10.1002/(ISSN)1552-4833</idno><idno type="book-part-DOI">10.1002/ajmg.a.v158a.9</idno><idno type="product">AJMG</idno><imprint><biblScope unit="vol">158A</biblScope><biblScope unit="issue">9</biblScope><biblScope unit="page" from="2183">2183</biblScope><biblScope unit="page" to="2187">2187</biblScope><biblScope unit="page-count">5</biblScope><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><pubPlace>Hoboken</pubPlace><date type="published" when="2012-09"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><head>Abstract</head><p>Catel–Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel–Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to <hi rend="italic">CANT1</hi> (calcium‐activated nucleotidase 1) mutations and also with “chondrodysplasia with joint dislocations, gPAPP type” due to <hi rend="italic">IMPAD1</hi> (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen <hi rend="italic">CANT1</hi> and <hi rend="italic">IMPAD1</hi> in Catel–Manzke patients. Three patients were diagnosed as classical Catel–Manzke syndrome and two as Catel–Manzke like patients, based on the presence of additional features. We identified two homozygous loss‐of‐function <hi rend="italic">IMPAD1</hi> mutations in the two Catel–Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that <hi rend="italic">IMPAD1</hi> should be screened for patients with Catel–Manzke and additional features. © 2012 Wiley Periodicals, Inc.</p></abstract><textClass><keywords xml:lang="en"><term xml:id="kwd1">autosomal recessive inheritance</term><term xml:id="kwd2">Catel–Manzke</term><term xml:id="kwd3">cleft palate</term><term xml:id="kwd4"><hi rend="italic">IMPAD1</hi></term></keywords><keywords rend="articleCategory"><term>Research Article</term></keywords><keywords rend="tocHeading1"><term>Research Articles</term></keywords></textClass><langUsage><language ident="en"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Wiley Subscription Services, Inc., A Wiley Company</publisherName><publisherLoc>Hoboken</publisherLoc></publisherInfo><doi registered="yes">10.1002/(ISSN)1552-4833</doi><issn type="print">1552-4825</issn><issn type="electronic">1552-4833</issn><idGroup><id type="product" value="AJMG"></id></idGroup><titleGroup><title type="main" xml:lang="en" sort="AMERICAN JOURNAL OF MEDICAL GENETICS">American Journal of Medical Genetics Part A</title><title type="short">Am. 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Additional supporting information may be found in the online version of this article.
</p><supportingInfoItem><mediaResource alt="supporting information" href="urn-x:wiley:15524825:media:ajmg35504:ajmg_35504_sm_SuppTab"></mediaResource><caption>Tables</caption></supportingInfoItem></supportingInformation><abstractGroup><abstract type="main" xml:lang="en"><title type="main">Abstract</title><p>Catel–Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel–Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to <i>CANT1</i> (calcium‐activated nucleotidase 1) mutations and also with “chondrodysplasia with joint dislocations, gPAPP type” due to <i>IMPAD1</i> (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen <i>CANT1</i> and <i>IMPAD1</i> in Catel–Manzke patients. Three patients were diagnosed as classical Catel–Manzke syndrome and two as Catel–Manzke like patients, based on the presence of additional features. We identified two homozygous loss‐of‐function <i>IMPAD1</i> mutations in the two Catel–Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that <i>IMPAD1</i> should be screened for patients with Catel–Manzke and additional features. © 2012 Wiley Periodicals, Inc.</p></abstract></abstractGroup></contentMeta><noteGroup><note xml:id="fn1"><p>The authors declare no conflict of interest.</p></note><note xml:id="fn2"><p>How to Cite this Article: Nizon M, Alanay Y, Tuysuz B, Kiper POS, Geneviève D, Sillence D, Huber C, Munnich A, Cormier‐Daire V. 2012. <i>IMPAD1</i> mutations in two Catel–Manzke like patients. Am J Med Genet Part A. 158A:2183–2187.</p></note></noteGroup></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>IMPAD1 mutations in two Catel‐Manzke like patients</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>IMPAD1 mutations in two Catel‐Manzke like patients</title></titleInfo><name type="personal"><namePart type="given">Mathilde</namePart><namePart type="family">Nizon</namePart><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Yasemin</namePart><namePart type="family">Alanay</namePart><affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</affiliation><affiliation>Pediatric Genetics, Department of Pediatrics, Acibadem University, School of Medicine, Istanbul, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Beyhan</namePart><namePart type="family">Tuysuz</namePart><affiliation>Division of Genetics, Department of Pediatrics, Istanbul University Cerrahpasa Faculty of Medicine, Istanbul, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Pelin Ozlem Simsek</namePart><namePart type="family">Kiper</namePart><affiliation>Pediatric Genetics Unit, Hacettepe University, Ihsan Dogramaci Children's Hospital, Ankara, Turkey</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Geneviève</namePart><affiliation>Department of Medical Genetics, CHRU Montpellier, Montpellier 1 University, Montpellier, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David</namePart><namePart type="family">Sillence</namePart><affiliation>Department of Genetic Medicine, University of Sydney, New South Wales, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Celine</namePart><namePart type="family">Huber</namePart><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, 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>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Prof. Valérie</namePart><namePart type="family">Cormier‐Daire</namePart><affiliation>Département de génétique, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, Paris, France</affiliation><affiliation>E-mail: valerie.cormier‐daire@inserm.fr</affiliation><affiliation>Correspondence address: Département de Génétique, INSERM U781, Université Paris Descartes‐Sorbonne Paris Cité, Institut Imagine, Hôpital Necker‐Enfants Malades, 149 rue de Sèvres, 75743 Paris Cedex 15, France.</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article" authority="ISTEX" authorityURI="https://content-type.data.istex.fr" valueURI="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</genre><originInfo><publisher>Wiley Subscription Services, Inc., A Wiley Company</publisher><place><placeTerm type="text">Hoboken</placeTerm></place><dateIssued encoding="w3cdtf">2012-09</dateIssued><dateCaptured encoding="w3cdtf">2012-03-06</dateCaptured><dateValid encoding="w3cdtf">2012-05-07</dateValid><copyrightDate encoding="w3cdtf">2012</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><extent unit="figures">4</extent><extent unit="tables">1</extent><extent unit="references">14</extent><extent unit="words">3384</extent></physicalDescription><abstract lang="en">Catel–Manzke syndrome is characterized by hyperphalangism with bilateral deviation of the index fingers and micrognathia with or without cleft palate. Some atypical patients present with additional malformations. No molecular basis is yet available. Most patients have an unremarkable family history but autosomal recessive inheritance has been recently suggested in a consanguineous family with recurrence in sibs. Catel–Manzke syndrome has overlapping features with Desbuquois dysplasia type 1 due to CANT1 (calcium‐activated nucleotidase 1) mutations and also with “chondrodysplasia with joint dislocations, gPAPP type” due to IMPAD1 (Inositol Monophosphatase Domain containing 1) mutations recently reported in four patients, all characterized by short stature, joint dislocations, brachydactyly and cleft palate. The aim of our study was to screen CANT1 and IMPAD1 in Catel–Manzke patients. Three patients were diagnosed as classical Catel–Manzke syndrome and two as Catel–Manzke like patients, based on the presence of additional features. We identified two homozygous loss‐of‐function IMPAD1 mutations in the two Catel–Manzke like patients (p.Arg187X and p.Ser108ArgfsX48). The phenotype was characterized by severe growth retardation with short and abnormal extremities, cleft palate with micrognathia and knee hyperlaxity. Radiographs of hands and feet revealed numerous accessory bones with abnormally shaped phalanges and carpal synostosis. Based on this report, we concluded that IMPAD1 should be screened for patients with Catel–Manzke and additional features. © 2012 Wiley Periodicals, Inc.</abstract><note type="content">*The authors declare no conflict of interest.</note><note type="content">*How to Cite this Article: Nizon M, Alanay Y, Tuysuz B, Kiper POS, Geneviève D, Sillence D, Huber C, Munnich A, Cormier‐Daire V. 2012. IMPAD1 mutations in two Catel–Manzke like patients. Am J Med Genet Part A. 158A:2183–2187.</note><subject lang="en"><genre>keywords</genre><topic>autosomal recessive inheritance</topic><topic>Catel–Manzke</topic><topic>cleft palate</topic><topic>IMPAD1</topic></subject><relatedItem type="host"><titleInfo><title>American Journal of Medical Genetics Part A</title></titleInfo><titleInfo type="abbreviated"><title>Am. 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><note type="content"> Additional supporting information may be found in the online version of this article.Supporting Info Item: Tables - </note><subject><genre>article-category</genre><topic>Research Article</topic></subject><identifier type="ISSN">1552-4825</identifier><identifier type="eISSN">1552-4833</identifier><identifier type="DOI">10.1002/(ISSN)1552-4833</identifier><identifier type="PublisherID">AJMG</identifier><part><date>2012</date><detail type="volume"><caption>vol.</caption><number>158A</number></detail><detail type="issue"><caption>no.</caption><number>9</number></detail><extent unit="pages"><start>2183</start><end>2187</end><total>5</total></extent></part></relatedItem><relatedItem type="preceding"><titleInfo><title>American Journal of Medical Genetics</title></titleInfo><identifier type="ISSN">0148-7299</identifier><identifier type="ISSN">1096-8628</identifier><part><date point="end">2004</date></part></relatedItem><identifier type="istex">75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2</identifier><identifier type="ark">ark:/67375/WNG-0M1L5CPC-3</identifier><identifier type="DOI">10.1002/ajmg.a.35504</identifier><identifier type="ArticleID">AJMG35504</identifier><accessCondition type="use and reproduction" contentType="copyright">Copyright © 2012 Wiley Periodicals, Inc.</accessCondition><recordInfo><recordContentSource authority="ISTEX" authorityURI="https://loaded-corpus.data.istex.fr" valueURI="https://loaded-corpus.data.istex.fr/ark:/67375/XBH-L0C46X92-X">wiley</recordContentSource><recordOrigin>Wiley Subscription Services, Inc., A Wiley Company</recordOrigin></recordInfo></mods><json:item><extension>json</extension><original>false</original><mimetype>application/json</mimetype><uri>https://api.istex.fr/document/75690E0219D2EB8B1A8B44A66ED1EC40EE1AE1A2/metadata/json</uri></json:item></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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