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A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27

Neide F Santos1, Rodrigo Secolin, Iara L Brandão-Almeida

  • 1Department of Medical Genetics, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.

American Journal of Medical Genetics. Part A
|April 4, 2008
PubMed

Insights

Researchers identified a new genetic locus for bilateral perisylvian polymicrogyria (BPP), a brain malformation. This finding refines the understanding of BPP genetics and may aid in future diagnosis.

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience

Background:

  • Polymicrogyria (PMG) involves excessive small brain gyri.
  • Bilateral perisylvian polymicrogyria (BPP) is the most common PMG subtype, presenting with pseudobulbar paresis, intellectual disability, and epilepsy.
  • Previous studies suggested a BPP locus on chromosome Xq28.

Observation:

  • This study analyzed 15 individuals from a family with BPP, including 8 affected patients.
  • Neurological examinations and MRI scans assessed clinical manifestations, revealing a spectrum from normal to mild abnormalities.
  • Genetic linkage analysis was performed using 18 microsatellite markers on chromosome Xq27-q28.

Findings:

  • Two-point linkage analysis yielded a maximum lod-score (Zmax) of 2.06 for markers DXS1205 and DXS1227.
  • Multipoint lod-scores identified a candidate interval of 13 cM between markers DXS1205 and DXS8043.
  • The results indicate a novel BPP locus on chromosome Xq27.2-Xq27.3, centromeric to the previously reported region.

Implications:

  • This discovery refines the genetic mapping of BPP.
  • It suggests a new chromosomal region responsible for BPP, potentially aiding in genetic diagnosis and understanding disease mechanisms.
  • Further research can focus on identifying the specific gene(s) within this new locus.

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