[Subcortical laminal heterotopia and lissencephaly: cerebral malformations of X-linked inheritance]
J M Pinard1, I Desguerre, J Motte
1Service de Neuropédiatrie, Hôpital Saint Vincent-de-Paul, Paris, France.
Abstract:
Subcortical laminar heterotopia (band heterotopia) is a brain malformation now recognized by MRI. We report 3 families (2 previously described) in which several members had subcortical laminar heterotopia or a more severe malformation (agyria/pachygyria). In these families, subcortical laminar heterotopia were observed in women and were associated with epilepsy or slight mental retardation depending on the extend of heterotopia. Males had lissencephaly with refractory epilepsy and severe mental retardation. The pedigrees of these families demonstrate that these 2 malformations originate from a single genetic origin. A single X-linked dominant gene is postulated. Diagnosis of subcortical laminar heterotopia in a female or lissencephaly in a male (except in the case of Miller-Dieker syndrome) requires appropriate genetic counselling in the family: brain imaging should be performed in relatives.
Insights
Subcortical laminar heterotopia and lissencephaly in families suggest a single X-linked dominant gene. This finding is crucial for genetic counseling and family screening for brain malformations.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Context:
- Subcortical laminar heterotopia (band heterotopia) is a recognized brain malformation.
- This condition, along with more severe forms like agyria/pachygyria, was observed in three families.
Purpose:
- To investigate the genetic basis of subcortical laminar heterotopia and related brain malformations.
- To establish the inheritance pattern within affected families.
Summary:
- Subcortical laminar heterotopia presented in females with epilepsy or mild intellectual disability.
- Males exhibited lissencephaly with severe intellectual disability and refractory epilepsy.
- Family pedigrees indicated a single genetic origin for both malformations.
Impact:
- A single X-linked dominant gene is postulated as the cause.
- Highlights the need for genetic counseling for affected females and males.
- Recommends brain imaging for relatives to diagnose potential malformations.
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