An autosomal recessive form of bilateral frontoparietal polymicrogyria maps to chromosome 16q12.2-21.

ABSTRACT: Polymicrogyria is a cerebral cortical malformation that is grossly characterized by excessive cortical folding and microscopically characterized by abnormal cortical layering. Although polymicrogyria appears to have one or more genetic causes, no polymicrogyria loci have been identified. Here we describe the clinical and radiographic features of a new genetic form of polymicrogyria and localize the responsible gene. We studied two consanguineous Palestinian pedigrees with an autosomal recessive form of bilateral frontoparietal polymicrogyria (BFPP), using linkage analysis. Five affected children had moderate-to-severe mental retardation, developmental delay, and esotropia, and four of the five affected children developed seizures. Brain magnetic-resonance imaging revealed polymicrogyria th

SUBMITTER: Piao X 

PROVIDER: S-EPMC379097 | biostudies-literature | 2002 Apr

REPOSITORIES: biostudies-literature