Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1-p23.1, 4q21.21-q22.1, 6q26-q27, and 21q2

William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Zand, Fuki M. Hisama, Christopher A. Walsh, Richard J. Leventer, Christa L. Martin, Marzena Gajecka, Lisa G. Shaffer

Research output: Contribution to journalArticlepeer-review

70 Scopus citations

Abstract

Polymicrogyria is a malformation of cortical development characterized by loss of the normal gyral pattern, which is replaced by many small and infolded gyri separated by shallow, partly fused sulci, and loss of middle cortical layers. The pathogenesis is unknown, yet emerging data supports the existence of several loci in the human genome. We report on the clinical and brain imaging features, and results of cytogenetic and molecular genetic studies in 29 patients with polymicrogyria associated with structural chromosome rearrangements. Our data map new polymicrogyria loci in chromosomes 4p36.3, 2p16.1-p23, 4q21.21-q22.1, 6q26-q27, and 21q21.3-q22.1, and possible loci in 1q44 and 18p as well. Most and possibly all of these loci demonstrate incomplete penetrance and variable expressivity. We anticipate that these data will serve as the basis for ongoing efforts to identify the causal genes located in these regions.

Original languageEnglish (US)
Pages (from-to)1637-1654
Number of pages18
JournalAmerican Journal of Medical Genetics, Part A
Volume146
Issue number13
DOIs
StatePublished - Jul 1 2008
Externally publishedYes

Keywords

  • Chromosome 18p
  • Chromosome 1p36
  • Chromosome 1q4
  • Chromosome 21q2
  • Chromosome 2p
  • Chromosome 4q2
  • Chromosome 6q2
  • Deletion
  • Duplication
  • Polymicrogyria

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