Links to Exploration step
Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study</title><author><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name></author><author><name sortKey="Cossee, M" sort="Cossee, M" uniqKey="Cossee M" first="M" last="Cossée">M. Cossée</name></author><author><name sortKey="Cormier Aire, V" sort="Cormier Aire, V" uniqKey="Cormier Aire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name></author><author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name></author><author><name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name></author><author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name></author><author><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name></author><author><name sortKey="Parent, P" sort="Parent, P" uniqKey="Parent P" first="P" last="Parent">P. Parent</name></author><author><name sortKey="David, A" sort="David, A" uniqKey="David A" first="A" last="David">A. David</name></author><author><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name></author><author><name sortKey="Mortier, G" sort="Mortier, G" uniqKey="Mortier G" first="G" last="Mortier">G. Mortier</name></author><author><name sortKey="Heron, D" sort="Heron, D" uniqKey="Heron D" first="D" last="Héron">D. Héron</name></author><author><name sortKey="Sagot, P" sort="Sagot, P" uniqKey="Sagot P" first="P" last="Sagot">P. Sagot</name></author><author><name sortKey="Bouvier, A M" sort="Bouvier, A M" uniqKey="Bouvier A" first="A M" last="Bouvier">A M Bouvier</name></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name></author><author><name sortKey="Cusin, V" sort="Cusin, V" uniqKey="Cusin V" first="V" last="Cusin">V. Cusin</name></author><author><name sortKey="Donzel, A" sort="Donzel, A" uniqKey="Donzel A" first="A" last="Donzel">A. Donzel</name></author><author><name sortKey="Devys, D" sort="Devys, D" uniqKey="Devys D" first="D" last="Devys">D. Devys</name></author><author><name sortKey="Teyssier, J R" sort="Teyssier, J R" uniqKey="Teyssier J" first="J R" last="Teyssier">J R Teyssier</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">16397067</idno><idno type="pmc">2564504</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2564504</idno><idno type="RBID">PMC:2564504</idno><idno type="doi">10.1136/jmg.2004.027672</idno><date when="2006">2006</date><idno type="wicri:Area/Pmc/Corpus">000052</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study</title><author><name sortKey="Thauvin Obinet, C" sort="Thauvin Obinet, C" uniqKey="Thauvin Obinet C" first="C" last="Thauvin-Robinet">C. Thauvin-Robinet</name></author><author><name sortKey="Cossee, M" sort="Cossee, M" uniqKey="Cossee M" first="M" last="Cossée">M. Cossée</name></author><author><name sortKey="Cormier Aire, V" sort="Cormier Aire, V" uniqKey="Cormier Aire V" first="V" last="Cormier-Daire">V. Cormier-Daire</name></author><author><name sortKey="Van Maldergem, L" sort="Van Maldergem, L" uniqKey="Van Maldergem L" first="L" last="Van Maldergem">L. Van Maldergem</name></author><author><name sortKey="Toutain, A" sort="Toutain, A" uniqKey="Toutain A" first="A" last="Toutain">A. Toutain</name></author><author><name sortKey="Alembik, Y" sort="Alembik, Y" uniqKey="Alembik Y" first="Y" last="Alembik">Y. Alembik</name></author><author><name sortKey="Bieth, E" sort="Bieth, E" uniqKey="Bieth E" first="E" last="Bieth">E. Bieth</name></author><author><name sortKey="Layet, V" sort="Layet, V" uniqKey="Layet V" first="V" last="Layet">V. Layet</name></author><author><name sortKey="Parent, P" sort="Parent, P" uniqKey="Parent P" first="P" last="Parent">P. Parent</name></author><author><name sortKey="David, A" sort="David, A" uniqKey="David A" first="A" last="David">A. David</name></author><author><name sortKey="Goldenberg, A" sort="Goldenberg, A" uniqKey="Goldenberg A" first="A" last="Goldenberg">A. Goldenberg</name></author><author><name sortKey="Mortier, G" sort="Mortier, G" uniqKey="Mortier G" first="G" last="Mortier">G. Mortier</name></author><author><name sortKey="Heron, D" sort="Heron, D" uniqKey="Heron D" first="D" last="Héron">D. Héron</name></author><author><name sortKey="Sagot, P" sort="Sagot, P" uniqKey="Sagot P" first="P" last="Sagot">P. Sagot</name></author><author><name sortKey="Bouvier, A M" sort="Bouvier, A M" uniqKey="Bouvier A" first="A M" last="Bouvier">A M Bouvier</name></author><author><name sortKey="Huet, F" sort="Huet, F" uniqKey="Huet F" first="F" last="Huet">F. Huet</name></author><author><name sortKey="Cusin, V" sort="Cusin, V" uniqKey="Cusin V" first="V" last="Cusin">V. Cusin</name></author><author><name sortKey="Donzel, A" sort="Donzel, A" uniqKey="Donzel A" first="A" last="Donzel">A. Donzel</name></author><author><name sortKey="Devys, D" sort="Devys, D" uniqKey="Devys D" first="D" last="Devys">D. Devys</name></author><author><name sortKey="Teyssier, J R" sort="Teyssier, J R" uniqKey="Teyssier J" first="J R" last="Teyssier">J R Teyssier</name></author></analytic><series><title level="j">Journal of Medical Genetics</title><idno type="ISSN">0022-2593</idno><idno type="eISSN">1468-6244</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within <italic>OFD1</italic>. A French and Belgian collaborative study collected 25 cases from 16 families. <italic>OFD1</italic> was analysed using direct sequencing and phenotype–genotype correlation was performed using χ<sup>2</sup> test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype–genotype correlation between (<italic>a</italic>) polycystic kidney disease and splice mutations; (<italic>b</italic>) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (<italic>c</italic>) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of <italic>OFD1</italic> mutation, polycystic kidneys and short stature were significantly more frequent in the group with no <italic>OFD1</italic> mutation, whereas lingual hamartomas were significantly more frequent in the group with <italic>OFD1</italic> mutation. Finally, an X inactivation study showed non‐random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype–genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.</p></div></front></TEI><pmc article-type="case-report"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">J Med Genet</journal-id><journal-title>Journal of Medical Genetics</journal-title><issn pub-type="ppub">0022-2593</issn><issn pub-type="epub">1468-6244</issn><publisher><publisher-name>BMJ Group</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">16397067</article-id><article-id pub-id-type="pmc">2564504</article-id><article-id pub-id-type="publisher-id">mg27672</article-id><article-id pub-id-type="doi">10.1136/jmg.2004.027672</article-id><article-categories><subj-group subj-group-type="heading"><subject>Letter to JMG</subject></subj-group></article-categories><title-group><article-title>Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Thauvin‐Robinet</surname><given-names>C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cossée</surname><given-names>M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cormier‐Daire</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Van Maldergem</surname><given-names>L</given-names></name></contrib><contrib contrib-type="author"><name><surname>Toutain</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Alembik</surname><given-names>Y</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bieth</surname><given-names>E</given-names></name></contrib><contrib contrib-type="author"><name><surname>Layet</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Parent</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>David</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Goldenberg</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Mortier</surname><given-names>G</given-names></name></contrib><contrib contrib-type="author"><name><surname>Héron</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Sagot</surname><given-names>P</given-names></name></contrib><contrib contrib-type="author"><name><surname>Bouvier</surname><given-names>A M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Huet</surname><given-names>F</given-names></name></contrib><contrib contrib-type="author"><name><surname>Cusin</surname><given-names>V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Donzel</surname><given-names>A</given-names></name></contrib><contrib contrib-type="author"><name><surname>Devys</surname><given-names>D</given-names></name></contrib><contrib contrib-type="author"><name><surname>Teyssier</surname><given-names>J R</given-names></name></contrib><on-behalf-of>L Faivre</on-behalf-of></contrib-group><aff><bold>C Thauvin‐Robinet</bold>, Centre de Génétique, Hôpital d'Enfants, CHU Dijon, France</aff><aff><bold>M Cossée</bold>,<bold>D Devys</bold>, Laboratoire de Diagnostic Génétique, CHRU Strasbourg, France</aff><aff><bold>V Cormier‐Daire</bold>,<bold>A Goldenberg</bold>, Département de Génétique, Hôpital Necker‐Enfants Malades, Paris, France</aff><aff><bold>L V Maldergem</bold>, Institut de Pathologie et de Génétique, Loverval, Belgique</aff><aff><bold>A Toutain</bold>, Service de Génétique, CHU Tours, France</aff><aff><bold>Y Alembik</bold>, Service de Génétique Médicale, Hôpital Hautepierre, CHU Strasbourg, France</aff><aff><bold>E Bieth</bold>, Laboratoire de Génétique, CHU Purpan, Toulouse, France</aff><aff><bold>V Layet</bold>, Unité de Cytogénétique et Génétique médicale, CH Le Havre, France</aff><aff><bold>P Parent</bold>, Département de Pédiatrie et de Génétique Médicale, CHU Brest, France</aff><aff><bold>A David</bold>, Service de Génétique Médicale, CHU Nantes, France</aff><aff><bold>G Mortier</bold>, Centre de Génétique Médicale, Ghent, Belgique</aff><aff><bold>D Héron</bold>, Département de Génétique Cytogénétique et Embryologie, Hôpital La Pitié‐Salpétrière, Paris, France</aff><aff><bold>P Sagot</bold>, Clinique Gynécologique et Obstétrique, Maternité du Bocage, CHU Dijon, France</aff><aff><bold>A M Bouvier</bold>, Centre d'Investigation Clinique et d'Epidémiologie Clinique, Faculté de Médecine, Dijon, France</aff><aff><bold>F Huet</bold>, Service de Pédiatrie 1, Hôpital d'Enfants, CHU Dijon, France</aff><aff><bold>V Cusin</bold>,<bold>A Donzel</bold>,<bold>J R Teyssier</bold>, Laboratoire de Génétique Moléculaire, Hôpital du Bocage, CHU Dijon, France</aff><author-notes><corresp>Correspondence to: Dr C Thauvin‐Robinet<break></break>Centre de Génétique, Hôpital d'Enfants, 10 Bd maréchal de Lattre de Tassigny, 21034 Dijon cédex, France; christel.thauvin@chu‐dijon.fr</corresp></author-notes><pub-date pub-type="ppub"><month>1</month><year>2006</year></pub-date><volume>43</volume><issue>1</issue><fpage>54</fpage><lpage>61</lpage><history><date date-type="received"><day>30</day><month>9</month><year>2004</year></date><date date-type="rev-recd"><day>3</day><month>12</month><year>2004</year></date><date date-type="accepted"><day>7</day><month>12</month><year>2004</year></date></history><permissions><copyright-statement>Copyright ©2006 BMJ Publishing Group Ltd.</copyright-statement></permissions><abstract><p>Oral–facial–digital syndrome type 1 (OFD1) is characterised by an X linked dominant mode of inheritance with lethality in males. Clinical features include facial dysmorphism with oral, tooth, and distal abnormalities, polycystic kidney disease, and central nervous system malformations. Large interfamilial and intrafamilial clinical variability has been widely reported, and 18 distinct mutations have been previously reported within <italic>OFD1</italic>. A French and Belgian collaborative study collected 25 cases from 16 families. <italic>OFD1</italic> was analysed using direct sequencing and phenotype–genotype correlation was performed using χ<sup>2</sup> test. X inactivation studies were performed on blood lymphocytes. In 11 families, 11 novel mutations, including nine frameshift, one nonsense, and one missense mutation were identified, which spanned nine different exons. A combination of our results with previously reported cases showed that the majority of mutations (65.5%) was located in exons 3, 8, 9, 13, and 16. There was phenotype–genotype correlation between (<italic>a</italic>) polycystic kidney disease and splice mutations; (<italic>b</italic>) mental retardation and mutations located in exons 3, 8, 9, 13, and 16; and (<italic>c</italic>) tooth abnormalities and mutations located in coiled coil domains. Comparing the phenotype of the families with a pathogenic mutation to families with absence of <italic>OFD1</italic> mutation, polycystic kidneys and short stature were significantly more frequent in the group with no <italic>OFD1</italic> mutation, whereas lingual hamartomas were significantly more frequent in the group with <italic>OFD1</italic> mutation. Finally, an X inactivation study showed non‐random X inactivation in a third of the samples. Differential X inactivation between mothers and daughters in two families with high intrafamilial variability was of particular interest. Slight phenotype–genotype correlations were established, and X inactivation study showed that skewed X inactivation could be partially involved in the pathogenesis of intrafamilial clinical variability.</p></abstract><kwd-group><kwd>OFD1</kwd><kwd>dominant X linked mode of inheritance</kwd></kwd-group></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/France/explor/LeHavreV1/Data/Pmc/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 000052 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Pmc/Corpus/biblio.hfd -nk 000052 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/France
|area= LeHavreV1
|flux= Pmc
|étape= Corpus
|type= RBID
|clé=
|texte=
}}
| This area was generated with Dilib version V0.6.25. |  |