Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Identifieur interne : 000015 ( Main/Exploration ); précédent : 000014; suivant : 000016Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
Auteurs : Gijs W E. Santen [Pays-Bas] ; Yu Sun [Pays-Bas] ; Antoinet C J. Gijsbers [Pays-Bas] ; Aurore Carré [France] ; Maureen Holvoet [Belgique] ; Arie Van Haeringen [Pays-Bas] ; Saskia A J. Lesnik Oberstein [Pays-Bas] ; Akemi Tomoda [Japon] ; Hiroyo Mabe [Japon] ; Michel Polak [France] ; Koenraad Devriendt [Belgique] ; Claudia A L. Ruivenkamp [Pays-Bas] ; Emilia K. Bijlsma [Pays-Bas]Source :
- Journal of Medical Genetics [ 0022-2593 ] ; 2012-06.
Abstract
Background Deletions including chromosome 14 band q13 have been linked to variable phenotypes. With current molecular methods the authors aim to elucidate a genotype–phenotype correlation by accurately determining the size and location of the deletions and the associated phenotype. Methods Here the authors report the molecular karyotyping and phenotypic description of seven patients with overlapping deletions including chromosome 14q13. Results The authors show that deletions including 14q13 result in a recognisable phenotype mainly due to haploinsufficiency of two genes (NKX2-1, PAX9). FOXG1 (on chromosome band 14q12) involvement seems to be the main determinant of phenotype severity. The patients in this study without FOXG1 involvement and deletions of up to 10 Mb have a relatively mild phenotype. The authors cannot explain why some patients in literature with overlapping but smaller deletions appear to have a more severe phenotype. A previously presumed association with holoprosencephaly could not be confirmed as none of the patients in this series had holoprosencephaly. Conclusions FOXG1 appears the main determinant of the severity of phenotypes resulting from deletions including 14q13. The collected data show no evidence for a locus for holoprosencephaly in the 14q13 region, but a locus for agenesis of the corpus callosum cannot be excluded.
Url:
DOI: 10.1136/jmedgenet-2011-100721
Affiliations:
- Belgique, France, Japon, Pays-Bas
- Hollande-Méridionale, Île-de-France
- Leyde, Paris, Villejuif
- Université Paris-Descartes
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Lesnik Oberstein</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Tomoda, Akemi" sort="Tomoda, Akemi" uniqKey="Tomoda A" first="Akemi" last="Tomoda">Akemi Tomoda</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Research Center for Child Mental Development, Graduate School of Medical Sciences, University of Fukui, Fukui</wicri:regionArea><wicri:noRegion>Fukui</wicri:noRegion></affiliation></author><author><name sortKey="Mabe, Hiroyo" sort="Mabe, Hiroyo" uniqKey="Mabe H" first="Hiroyo" last="Mabe">Hiroyo Mabe</name><affiliation wicri:level="1"><country xml:lang="fr">Japon</country><wicri:regionArea>Department of Child Development, Faculty of Life Sciences, Kumamoto University, Kumamoto</wicri:regionArea><wicri:noRegion>Kumamoto</wicri:noRegion></affiliation></author><author><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name><affiliation wicri:level="4"><country xml:lang="fr">France</country><wicri:regionArea>Université Paris Descartes, Sorbonne Paris Cité, INSERM U845, Pediatric endocrinology, AP-HP, Hôpital Necker Enfants Malades, Paris</wicri:regionArea><placeName><region type="region">Île-de-France</region><region type="old region">Île-de-France</region><settlement type="city">Paris</settlement></placeName><orgName type="university">Université Paris-Descartes</orgName></affiliation></author><author><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name><affiliation wicri:level="1"><country xml:lang="fr">Belgique</country><wicri:regionArea>Center for Human Genetics, University Hospital Leuven and K.U.Leuven, Leuven</wicri:regionArea><wicri:noRegion>Leuven</wicri:noRegion></affiliation></author><author><name sortKey="Ruivenkamp, Claudia A L" sort="Ruivenkamp, Claudia A L" uniqKey="Ruivenkamp C" first="Claudia A L" last="Ruivenkamp">Claudia A L. Ruivenkamp</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></affiliation></author><author><name sortKey="Bijlsma, Emilia K" sort="Bijlsma, Emilia K" uniqKey="Bijlsma E" first="Emilia K" last="Bijlsma">Emilia K. Bijlsma</name><affiliation wicri:level="3"><country xml:lang="fr">Pays-Bas</country><wicri:regionArea>Center for Human and Clinical Genetics, Leiden University Medical Center (LUMC), Leiden</wicri:regionArea><placeName><settlement type="city">Leyde</settlement><region nuts="2" type="province">Hollande-Méridionale</region></placeName></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="2012-06">2012-06</date><biblScope unit="volume">49</biblScope><biblScope unit="issue">6</biblScope><biblScope unit="page" from="366">366</biblScope></imprint><idno type="ISSN">0022-2593</idno></series><idno type="istex">19B70F75031B330BE13D2F2041DDC4671E05BF94</idno><idno type="DOI">10.1136/jmedgenet-2011-100721</idno><idno type="href">jmedgenet-49-366.pdf</idno><idno type="ArticleID">jmedgenet-2011-100721</idno><idno type="PMID">22636604</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0022-2593</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">Background Deletions including chromosome 14 band q13 have been linked to variable phenotypes. With current molecular methods the authors aim to elucidate a genotype–phenotype correlation by accurately determining the size and location of the deletions and the associated phenotype. Methods Here the authors report the molecular karyotyping and phenotypic description of seven patients with overlapping deletions including chromosome 14q13. Results The authors show that deletions including 14q13 result in a recognisable phenotype mainly due to haploinsufficiency of two genes (NKX2-1, PAX9). FOXG1 (on chromosome band 14q12) involvement seems to be the main determinant of phenotype severity. The patients in this study without FOXG1 involvement and deletions of up to 10 Mb have a relatively mild phenotype. The authors cannot explain why some patients in literature with overlapping but smaller deletions appear to have a more severe phenotype. A previously presumed association with holoprosencephaly could not be confirmed as none of the patients in this series had holoprosencephaly. Conclusions FOXG1 appears the main determinant of the severity of phenotypes resulting from deletions including 14q13. The collected data show no evidence for a locus for holoprosencephaly in the 14q13 region, but a locus for agenesis of the corpus callosum cannot be excluded.</div></front></TEI><affiliations><list><country><li>Belgique</li><li>France</li><li>Japon</li><li>Pays-Bas</li></country><region><li>Hollande-Méridionale</li><li>Île-de-France</li></region><settlement><li>Leyde</li><li>Paris</li><li>Villejuif</li></settlement><orgName><li>Université Paris-Descartes</li></orgName></list><tree><country name="Pays-Bas"><region name="Hollande-Méridionale"><name sortKey="Santen, Gijs W E" sort="Santen, Gijs W E" uniqKey="Santen G" first="Gijs W E" last="Santen">Gijs W E. Santen</name></region><name sortKey="Bijlsma, Emilia K" sort="Bijlsma, Emilia K" uniqKey="Bijlsma E" first="Emilia K" last="Bijlsma">Emilia K. Bijlsma</name><name sortKey="Gijsbers, Antoinet C J" sort="Gijsbers, Antoinet C J" uniqKey="Gijsbers A" first="Antoinet C J" last="Gijsbers">Antoinet C J. Gijsbers</name><name sortKey="Haeringen, Arie Van" sort="Haeringen, Arie Van" uniqKey="Haeringen A" first="Arie Van" last="Haeringen">Arie Van Haeringen</name><name sortKey="Haeringen, Arie Van" sort="Haeringen, Arie Van" uniqKey="Haeringen A" first="Arie Van" last="Haeringen">Arie Van Haeringen</name><name sortKey="Lesnik Oberstein, Saskia A J" sort="Lesnik Oberstein, Saskia A J" uniqKey="Lesnik Oberstein S" first="Saskia A J" last="Lesnik Oberstein">Saskia A J. Lesnik Oberstein</name><name sortKey="Ruivenkamp, Claudia A L" sort="Ruivenkamp, Claudia A L" uniqKey="Ruivenkamp C" first="Claudia A L" last="Ruivenkamp">Claudia A L. Ruivenkamp</name><name sortKey="Santen, Gijs W E" sort="Santen, Gijs W E" uniqKey="Santen G" first="Gijs W E" last="Santen">Gijs W E. Santen</name><name sortKey="Sun, Yu" sort="Sun, Yu" uniqKey="Sun Y" first="Yu" last="Sun">Yu Sun</name></country><country name="France"><noRegion><name sortKey="Carre, Aurore" sort="Carre, Aurore" uniqKey="Carre A" first="Aurore" last="Carré">Aurore Carré</name></noRegion><name sortKey="Polak, Michel" sort="Polak, Michel" uniqKey="Polak M" first="Michel" last="Polak">Michel Polak</name></country><country name="Belgique"><noRegion><name sortKey="Holvoet, Maureen" sort="Holvoet, Maureen" uniqKey="Holvoet M" first="Maureen" last="Holvoet">Maureen Holvoet</name></noRegion><name sortKey="Devriendt, Koenraad" sort="Devriendt, Koenraad" uniqKey="Devriendt K" first="Koenraad" last="Devriendt">Koenraad Devriendt</name></country><country name="Japon"><noRegion><name sortKey="Tomoda, Akemi" sort="Tomoda, Akemi" uniqKey="Tomoda A" first="Akemi" last="Tomoda">Akemi Tomoda</name></noRegion><name sortKey="Mabe, Hiroyo" sort="Mabe, Hiroyo" uniqKey="Mabe H" first="Hiroyo" last="Mabe">Hiroyo Mabe</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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