title: A new candidate locus for bilateral perisylvian polymicrogyria mapped on chromosome Xq27.
abstract: Polymicrogyria (PMG) is characterized by an excessive number of small and prominent brain gyri, separated by shallow sulci. Bilateral perisylvian polymicrogyria (BPP) is the most common form of PMG. Clinical signs include pseudobulbar paresis, mental retardation, and epilepsy. Familial forms of BPP have been described and a candidate locus was previously mapped to chromosome Xq28, distal do marker DXS8103. The objective of this study was to perform linkage analysis in one family segregating BPP. A total of 15 individuals, including 8 affected patients with BPP were evaluated. Family members were examined by a neurologist and subjected to magnetic resonance imaging scans. Individuals were genotyped for 18 microsatellite markers, flanking a 42.3 cM interval on ch Xq27-q28. Two-point and multipoint linkage analysis was performed using the LINKAGE package and haplotype reconstruction was performed by GENEHUNTER software. Our results showed a wide spectrum of clinical manifestations in affected individuals with BPP, ranging from normal to mild neurological abnormalities. Two-point linkage analysis yield a Zmax = 2.06 at theta = 0.00 for markers DXS1205 and DXS1227. Multipoint lod-scores indicate a candidate interval of 13 cM between markers DSXS1205 and DXS8043, on ch Xq27.2-Xq27.3. These results point to a new locus for BPP in a more centromeric location than previously reported.
authors.affiliation: Department of Medical Genetics, University of Campinas (UNICAMP), Campinas, São Paulo, Brazil.
authors.forename: Neide F
authors.initials: NF
authors.lastname: Santos
authors.forename: Rodrigo
authors.initials: R
authors.lastname: Secolin
authors.forename: Iara L
authors.initials: IL
authors.lastname: Brandão-Almeida
authors.forename: Marilza S
authors.initials: MS
authors.lastname: Silva
authors.forename: Fábio R
authors.initials: FR
authors.lastname: Torres
authors.forename: Simone S
authors.initials: SS
authors.lastname: Tsuneda
authors.forename: Catarina A
authors.initials: CA
authors.lastname: Guimarães
authors.forename: Simone R V
authors.initials: SR
authors.lastname: Hage
authors.forename: Fernando
authors.initials: F
authors.lastname: Cendes
authors.forename: Marilisa M
authors.initials: MM
authors.lastname: Guerreiro
authors.forename: Iscia
authors.initials: I
authors.lastname: Lopes-Cendes
mesh_terms: D000328:Adult; D002540:Cerebral Cortex / Q000002:abnormalities; D002648:Child; D002874:Chromosome Mapping; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008126:Lod Score; D008279:Magnetic Resonance Imaging; D008297:Male; D054220:Malformations of Cortical Development / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D018895:Microsatellite Repeats; D010375:Pedigree