Subcortical laminar heterotopia and lissencephaly in two families: a single X linked dominant gene.
AUTOR(ES)
Pinard, J M
RESUMO
Neuronal migration disorders can now be recognised by MRI. This paper reports two families in which the mothers had subcortical laminar heterotopia and four of their children had either similar heterotopia (two girls) or severe pachygyria or lissencephaly (two boys). Laminar heterotopia was more evident on MRI T2 weighted images. The patients had mild to severe epilepsy and mental retardation depending on the extent of cortical abnormalities. In these families, subcortical laminar heterotopia, pachygyria, and lissencephaly seem to share the same X linked or autosomal dominant gene. No chromosomal abnormalities, especially of chromosome 17, could be identified. For appropriate genetic counselling of the family of a child with lissencephaly or subcortical laminar heterotopia, MRI should be performed in parents or siblings with mental retardation or epilepsy.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1073073Documentos Relacionados
- Dominant X linked subcortical laminar heterotopia and lissencephaly syndrome (XSCLH/LIS): evidence for the occurrence of mutation in males and mapping of a potential locus in Xq22.
- Unusual MRI appearance of diffuse subcortical heterotopia or "double cortex" in two children.
- Similar interstitial deletions of the KAL-1 gene in two Brazilian families with X-linked Kallmann Syndrome
- Frequent small amplifications in the FMR-1 gene in fra(X) families: limits to the diagnosis of 'premutations'.
- Amyloid polyneuropathy in two German-American families: a new transthyretin variant (Val 107).