Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly
Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Fallet-Bianco, Catherine [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2014 |
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| Schlagwörter: |
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| Anmerkung: |
© Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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| Übergeordnetes Werk: |
Enthalten in: Acta Neuropathologica Communications - London : Biomed Central, 2013, 2(2014), 1 vom: 25. Juli |
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| Übergeordnetes Werk: |
volume:2 ; year:2014 ; number:1 ; day:25 ; month:07 |
| Links: |
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| DOI / URN: |
10.1186/2051-5960-2-69 |
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| Katalog-ID: |
SPR036508233 |
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| 245 | 1 | 0 | |a Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly |
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| 520 | |a Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). | ||
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| 700 | 1 | |a Dias, Patricia |4 aut | |
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| 700 | 1 | |a Lhermitte, Benoit |4 aut | |
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| 700 | 1 | |a Loget, Philippe |4 aut | |
| 700 | 1 | |a Chelly, Jamel |4 aut | |
| 700 | 1 | |a Bahi-Buisson, Nadia |4 aut | |
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10.1186/2051-5960-2-69 doi (DE-627)SPR036508233 (SPR)2051-5960-2-69-e DE-627 ger DE-627 rakwb eng Fallet-Bianco, Catherine verfasserin aut Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). Microlissencephaly (dpeaa)DE-He213 Lissencephaly (dpeaa)DE-He213 Polymicrogyria (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Tubulin genes (dpeaa)DE-He213 Laquerrière, Annie aut Poirier, Karine aut Razavi, Ferechte aut Guimiot, Fabien aut Dias, Patricia aut Loeuillet, Laurence aut Lascelles, Karine aut Beldjord, Cherif aut Carion, Nathalie aut Toussaint, Aurélie aut Revencu, Nicole aut Addor, Marie-Claude aut Lhermitte, Benoit aut Gonzales, Marie aut Martinovich, Jelena aut Bessieres, Bettina aut Marcy-Bonnière, Maryse aut Jossic, Frédérique aut Marcorelles, Pascale aut Loget, Philippe aut Chelly, Jamel aut Bahi-Buisson, Nadia aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 2(2014), 1 vom: 25. Juli (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:2 year:2014 number:1 day:25 month:07 https://dx.doi.org/10.1186/2051-5960-2-69 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2014 1 25 07 |
| spelling |
10.1186/2051-5960-2-69 doi (DE-627)SPR036508233 (SPR)2051-5960-2-69-e DE-627 ger DE-627 rakwb eng Fallet-Bianco, Catherine verfasserin aut Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). Microlissencephaly (dpeaa)DE-He213 Lissencephaly (dpeaa)DE-He213 Polymicrogyria (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Tubulin genes (dpeaa)DE-He213 Laquerrière, Annie aut Poirier, Karine aut Razavi, Ferechte aut Guimiot, Fabien aut Dias, Patricia aut Loeuillet, Laurence aut Lascelles, Karine aut Beldjord, Cherif aut Carion, Nathalie aut Toussaint, Aurélie aut Revencu, Nicole aut Addor, Marie-Claude aut Lhermitte, Benoit aut Gonzales, Marie aut Martinovich, Jelena aut Bessieres, Bettina aut Marcy-Bonnière, Maryse aut Jossic, Frédérique aut Marcorelles, Pascale aut Loget, Philippe aut Chelly, Jamel aut Bahi-Buisson, Nadia aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 2(2014), 1 vom: 25. Juli (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:2 year:2014 number:1 day:25 month:07 https://dx.doi.org/10.1186/2051-5960-2-69 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2014 1 25 07 |
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10.1186/2051-5960-2-69 doi (DE-627)SPR036508233 (SPR)2051-5960-2-69-e DE-627 ger DE-627 rakwb eng Fallet-Bianco, Catherine verfasserin aut Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). Microlissencephaly (dpeaa)DE-He213 Lissencephaly (dpeaa)DE-He213 Polymicrogyria (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Tubulin genes (dpeaa)DE-He213 Laquerrière, Annie aut Poirier, Karine aut Razavi, Ferechte aut Guimiot, Fabien aut Dias, Patricia aut Loeuillet, Laurence aut Lascelles, Karine aut Beldjord, Cherif aut Carion, Nathalie aut Toussaint, Aurélie aut Revencu, Nicole aut Addor, Marie-Claude aut Lhermitte, Benoit aut Gonzales, Marie aut Martinovich, Jelena aut Bessieres, Bettina aut Marcy-Bonnière, Maryse aut Jossic, Frédérique aut Marcorelles, Pascale aut Loget, Philippe aut Chelly, Jamel aut Bahi-Buisson, Nadia aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 2(2014), 1 vom: 25. Juli (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:2 year:2014 number:1 day:25 month:07 https://dx.doi.org/10.1186/2051-5960-2-69 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2014 1 25 07 |
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10.1186/2051-5960-2-69 doi (DE-627)SPR036508233 (SPR)2051-5960-2-69-e DE-627 ger DE-627 rakwb eng Fallet-Bianco, Catherine verfasserin aut Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). Microlissencephaly (dpeaa)DE-He213 Lissencephaly (dpeaa)DE-He213 Polymicrogyria (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Tubulin genes (dpeaa)DE-He213 Laquerrière, Annie aut Poirier, Karine aut Razavi, Ferechte aut Guimiot, Fabien aut Dias, Patricia aut Loeuillet, Laurence aut Lascelles, Karine aut Beldjord, Cherif aut Carion, Nathalie aut Toussaint, Aurélie aut Revencu, Nicole aut Addor, Marie-Claude aut Lhermitte, Benoit aut Gonzales, Marie aut Martinovich, Jelena aut Bessieres, Bettina aut Marcy-Bonnière, Maryse aut Jossic, Frédérique aut Marcorelles, Pascale aut Loget, Philippe aut Chelly, Jamel aut Bahi-Buisson, Nadia aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 2(2014), 1 vom: 25. Juli (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:2 year:2014 number:1 day:25 month:07 https://dx.doi.org/10.1186/2051-5960-2-69 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2014 1 25 07 |
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10.1186/2051-5960-2-69 doi (DE-627)SPR036508233 (SPR)2051-5960-2-69-e DE-627 ger DE-627 rakwb eng Fallet-Bianco, Catherine verfasserin aut Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly 2014 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). Microlissencephaly (dpeaa)DE-He213 Lissencephaly (dpeaa)DE-He213 Polymicrogyria (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Tubulin genes (dpeaa)DE-He213 Laquerrière, Annie aut Poirier, Karine aut Razavi, Ferechte aut Guimiot, Fabien aut Dias, Patricia aut Loeuillet, Laurence aut Lascelles, Karine aut Beldjord, Cherif aut Carion, Nathalie aut Toussaint, Aurélie aut Revencu, Nicole aut Addor, Marie-Claude aut Lhermitte, Benoit aut Gonzales, Marie aut Martinovich, Jelena aut Bessieres, Bettina aut Marcy-Bonnière, Maryse aut Jossic, Frédérique aut Marcorelles, Pascale aut Loget, Philippe aut Chelly, Jamel aut Bahi-Buisson, Nadia aut Enthalten in Acta Neuropathologica Communications London : Biomed Central, 2013 2(2014), 1 vom: 25. Juli (DE-627)746066465 (DE-600)2715589-4 2051-5960 nnns volume:2 year:2014 number:1 day:25 month:07 https://dx.doi.org/10.1186/2051-5960-2-69 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2014 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2 2014 1 25 07 |
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Fallet-Bianco, Catherine @@aut@@ Laquerrière, Annie @@aut@@ Poirier, Karine @@aut@@ Razavi, Ferechte @@aut@@ Guimiot, Fabien @@aut@@ Dias, Patricia @@aut@@ Loeuillet, Laurence @@aut@@ Lascelles, Karine @@aut@@ Beldjord, Cherif @@aut@@ Carion, Nathalie @@aut@@ Toussaint, Aurélie @@aut@@ Revencu, Nicole @@aut@@ Addor, Marie-Claude @@aut@@ Lhermitte, Benoit @@aut@@ Gonzales, Marie @@aut@@ Martinovich, Jelena @@aut@@ Bessieres, Bettina @@aut@@ Marcy-Bonnière, Maryse @@aut@@ Jossic, Frédérique @@aut@@ Marcorelles, Pascale @@aut@@ Loget, Philippe @@aut@@ Chelly, Jamel @@aut@@ Bahi-Buisson, Nadia @@aut@@ |
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Fallet-Bianco, Catherine misc Microlissencephaly misc Lissencephaly misc Polymicrogyria misc Microcephaly misc Tubulin genes Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly |
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly Microlissencephaly (dpeaa)DE-He213 Lissencephaly (dpeaa)DE-He213 Polymicrogyria (dpeaa)DE-He213 Microcephaly (dpeaa)DE-He213 Tubulin genes (dpeaa)DE-He213 |
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Fallet-Bianco, Catherine Laquerrière, Annie Poirier, Karine Razavi, Ferechte Guimiot, Fabien Dias, Patricia Loeuillet, Laurence Lascelles, Karine Beldjord, Cherif Carion, Nathalie Toussaint, Aurélie Revencu, Nicole Addor, Marie-Claude Lhermitte, Benoit Gonzales, Marie Martinovich, Jelena Bessieres, Bettina Marcy-Bonnière, Maryse Jossic, Frédérique Marcorelles, Pascale Loget, Philippe Chelly, Jamel Bahi-Buisson, Nadia |
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mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly |
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Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly |
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Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
| abstract_unstemmed |
Abstract Complex cortical malformations associated with mutations in tubulin genes are commonly referred to as “Tubulinopathies”. To further characterize the mutation frequency and phenotypes associated with tubulin mutations, we studied a cohort of 60 foetal cases. Twenty-six tubulin mutations were identified, of which TUBA1A mutations were the most prevalent (19 cases), followed by TUBB2B (6 cases) and TUBB3 (one case). Three subtypes clearly emerged. The most frequent (n = 13) was microlissencephaly with corpus callosum agenesis, severely hypoplastic brainstem and cerebellum. The cortical plate was either absent (6/13), with a 2–3 layered pattern (5/13) or less frequently thickened (2/13), often associated with neuroglial overmigration (4/13). All cases had voluminous germinal zones and ganglionic eminences. The second subtype was lissencephaly (n = 7), either classical (4/7) or associated with cerebellar hypoplasia (3/7) with corpus callosum agenesis (6/7). All foetuses with lissencephaly and cerebellar hypoplasia carried distinct TUBA1A mutations, while those with classical lissencephaly harbored recurrent mutations in TUBA1A (3 cases) or TUBB2B (1 case). The third group was polymicrogyria-like cortical dysplasia (n = 6), consisting of asymmetric multifocal or generalized polymicrogyria with inconstant corpus callosum agenesis (4/6) and hypoplastic brainstem and cerebellum (3/6). Polymicrogyria was either unlayered or 4-layered with neuronal heterotopias (5/6) and occasional focal neuroglial overmigration (2/6). Three had TUBA1A mutations and 3 TUBB2B mutations. Foetal TUBA1A tubulinopathies most often consist in microlissencephaly or classical lissencephaly with corpus callosum agenesis, but polymicrogyria may also occur. Conversely, TUBB2B mutations are responsible for either polymicrogyria (4/6) or microlissencephaly (2/6). © Fallet-Bianco et al.; licensee BioMed Central Ltd. 2014. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( |
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