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Article Dans Une Revue Archives of Neurology -Chigago- Année : 2009

LIS1-Related Isolated Lissencephaly

Yoann Saillour
  • Fonction : Auteur
Chloe Quelin
  • Fonction : Auteur
Annick Toutain
Marie Anne Barthez
  • Fonction : Auteur
Sylvie Joriot
  • Fonction : Auteur
  • PersonId : 925168
Dominique Broglin
  • Fonction : Auteur
Agathe Roubertie
  • Fonction : Auteur
  • PersonId : 902595
Gaëlle Pitelet
  • Fonction : Auteur
  • PersonId : 935825
Marie Laure Moutard
  • Fonction : Auteur
Jean-Marc Pinard
  • Fonction : Auteur
  • PersonId : 935821
Clément Cancès
Anna Kaminska
  • Fonction : Auteur
  • PersonId : 906988
Jamel Chelly
  • Fonction : Auteur
  • PersonId : 906968

Résumé

Objective: With the largest data set of patients with LIS1-related lissencephaly, the major cause of posteriorly predominant lissencephaly related to either LIS1 mutation or intragenic deletion, described so far, we aimed to refine the spectrum of neurological and radiological features and to assess relationships with the genotype. Design: Retrospective study. Subjects: A total of 63 patients with posteriorly predominant lissencephaly. Interventions: Of the 63 patients, 40 were found to carry either LIS1 point mutations (77.5%) or small genomic deletions (20%), and 1 carried a somatic nonsense mutation. On the basis of the severity of neuromotor impairment, epilepsy, and radiological findings, correlations with the location and type of mutation were examined. Results: Most patients with LIS1 mutations demonstrated posterior agyria (grade 3a, 55.3%) with thin corpus callosum (50%) and prominent perivascular spaces (67.4%). By contrast, patients without LIS1 mutations tended to have less severe lissencephaly (grade 4a, 41.6%) and no additional brain abnormalities. The degree of neuromotor impairment was in accordance with the severity of lissencephaly, with a high incidence of tetraplegia (61.1%). Conversely, the severity of epilepsy was not determined with the same reliability because 82.9% had early onset of seizures and 48.7% had seizures more often than daily. In addition, neither the mutation type nor the location of the mutation were found to predict the severity of LIS1-related lissencephaly. Conclusion: Our results confirm the homogeneity profile of patients with LIS1-related lissencephaly who demonstrate in a large proportion Dobyns lissencephaly grade 3a, and the absence of correlation with LIS1 mutations.
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Dates et versions

hal-01104698 , version 1 (10-04-2019)

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Yoann Saillour, Nathalie Carion, Chloe Quelin, Pierre-Louis Leger, Nathalie Boddaert, et al.. LIS1-Related Isolated Lissencephaly: Spectrum of Mutations and Relationships With Malformation Severity. Archives of Neurology -Chigago-, 2009, 66 (8), pp.1007-1015. ⟨10.1001/archneurol.2009.149⟩. ⟨hal-01104698⟩
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