A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome
X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
1998 |
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| Erschienen: |
1998 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:92 |
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| Enthalten in: |
Cell - 92(1998), 1 vom: 09. Jan., Seite 51-61 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
des Portes, V [VerfasserIn] |
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| Themen: |
DNA, Complementary |
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| Anmerkungen: |
Date Completed 16.03.1998 Date Revised 03.12.2021 published: Print GENBANK: AJ003112, AJ005591, AJ005592, AJ005593, AJ005594, AJ005595, AJ005596, AJ005597 Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM094317984 |
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| 100 | 1 | |a des Portes, V |e verfasserin |4 aut | |
| 245 | 1 | 2 | |a A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome |
| 264 | 1 | |c 1998 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ohne Hilfsmittel zu benutzen |b n |2 rdamedia | ||
| 338 | |a Band |b nc |2 rdacarrier | ||
| 500 | |a Date Completed 16.03.1998 | ||
| 500 | |a Date Revised 03.12.2021 | ||
| 500 | |a published: Print | ||
| 500 | |a GENBANK: AJ003112, AJ005591, AJ005592, AJ005593, AJ005594, AJ005595, AJ005596, AJ005597 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a X-SCLH/LIS syndrome is a neuronal migration disorder with disruption of the six-layered neocortex. It consists of subcortical laminar heterotopia (SCLH, band heterotopia, or double cortex) in females and lissencephaly (LIS) in males, leading to epilepsy and cognitive impairment. We report the characterization of a novel CNS gene encoding a 40 kDa predicted protein that we named Doublecortin and the identification of mutations in four unrelated X-SCLH/LIS cases. The predicted protein shares significant homology with the N-terminal segment of a protein containing a protein kinase domain at its C-terminal part. This novel gene is highly expressed during brain development, mainly in fetal neurons including precursors. The complete disorganization observed in lissencephaly and heterotopia thus seems to reflect a failure of early events associated with neuron dispersion | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a DNA, Complementary |2 NLM | |
| 650 | 7 | |a Doublecortin Domain Proteins |2 NLM | |
| 650 | 7 | |a Microtubule-Associated Proteins |2 NLM | |
| 650 | 7 | |a Neuropeptides |2 NLM | |
| 650 | 7 | |a Peptides |2 NLM | |
| 700 | 1 | |a Pinard, J M |e verfasserin |4 aut | |
| 700 | 1 | |a Billuart, P |e verfasserin |4 aut | |
| 700 | 1 | |a Vinet, M C |e verfasserin |4 aut | |
| 700 | 1 | |a Koulakoff, A |e verfasserin |4 aut | |
| 700 | 1 | |a Carrié, A |e verfasserin |4 aut | |
| 700 | 1 | |a Gelot, A |e verfasserin |4 aut | |
| 700 | 1 | |a Dupuis, E |e verfasserin |4 aut | |
| 700 | 1 | |a Motte, J |e verfasserin |4 aut | |
| 700 | 1 | |a Berwald-Netter, Y |e verfasserin |4 aut | |
| 700 | 1 | |a Catala, M |e verfasserin |4 aut | |
| 700 | 1 | |a Kahn, A |e verfasserin |4 aut | |
| 700 | 1 | |a Beldjord, C |e verfasserin |4 aut | |
| 700 | 1 | |a Chelly, J |e verfasserin |4 aut | |
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