Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24

Seckel syndrome (MIM 210600) is an autosomal recessive disorder of low birt h weight, severe microcephaly, and dysmorphic facial appearance with recedi ng forehead, prominent nose, and micrognathia. We have performed a genomic screen in two consanguineous families of Pakistani origin and found that th e disorder segregates with markers between loci D3S1316 and D3S3710, which map to chromosome 3q22.1-q24. Analysis using HOMOZ/ MAPMAKER gave a maximum LOD score of 8.72. All five affected individuals were homozygous for the s ame allele, for two adjacent polymorphic markers within the region segregat ing with the disease, narrowing the region to 12 cM.