Refined Mapping Of MRX84 And Exclusion Of ZNF41, FTSJ1, FGD1, DLG3, NLGN3, SLC16A2 And IL1PAPL2 As Candidate Genes

Mental retardation (MR) is a series dysphrenia disease characterized by disturbance of intelligence, emotion and social adaptive behaviors. The remarkable phenotypic manifestations of MR patients are MR and lackness of social adaptive behaviors. Searching for the genes responsible for MR, which is genetically heterogeneous and has high incidence and complex causes, is not only very helpful to study the mechanism of MR, but also beneficial to learn the development mechanism of normal mentality. Mapping and identifying the genes responsible for mental retardation have been focused on X-linked genes, because X-linked mental retardation (XLMR) is a major contributor to the cause of MR, and mapping X-linked genes is much easier than autosomal genes. By September 2005, 209 XLMR have been defined and among them 65 genes have been identified.Nonspecific X-linked mental retardation (also named as MRX) accounts for more than 2/3 of all XLMRs, and MRX patients have no consistent phenotypic manifestations other than MR. Because of its highly genetic heterogeneity, mapping and identifying of the gene responsible for MRX is based on the analysis of single large family.MRX84 family was identified in the survey of genetic disorders in Shandong Province. By using X chromosome screening approach, Zhang et al. mapped the disease gene to a 22.3cM interval between DXS8080 in Xp11.3 and DXS456 in Xq22.3 based on the linkage analysis in 2002, MRX84 was given by Human Genome Organization (HUGO) Gene Nomenclature Committee. To facilitate identifying the gene responsible for MRX84, refined mapping and candidate gene analysis were conducted.