title: Family MRX9 revisited: further evidence for locus heterogeneity in MRX.
abstract: Nonspecific X-linked mental retardation (MRX) patients are characterized by mental retardation, without additional distinguishing features. Consequently, MRX families can only be distinguished by mapping studies; yet, due to imprecise mapping studies performed in the past, the number of genes causing MRX is debatable, and a more precise localization for families is necessary to estimate this number. MRX 9 has been mapped to the pericentromeric region Xp21-q13. We refined the mapping of the MRX9 family to Xp11.22-Xp11.4. A sequencing analysis of three likely candidate genes in Xp11, SREB3, synapsin I, and TM4SF2, revealed no mutations.
authors.affiliation: Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Birgitta
authors.initials: B
authors.lastname: Winnepenninckx
authors.forename: Vanessa
authors.initials: V
authors.lastname: Errijgers
authors.forename: Edwin
authors.initials: E
authors.lastname: Reyniers
authors.forename: Peter P
authors.initials: PP
authors.lastname: De Deyn
authors.forename: Fatima E
authors.initials: FE
authors.lastname: Abidi
authors.forename: Charles E
authors.initials: CE
authors.lastname: Schwartz
authors.forename: R Frank
authors.initials: RF
authors.lastname: Kooy
mesh_terms: D001483:Base Sequence; D041321:Chromosomes, Human, X; D017931:DNA Primers; D005260:Female; D018740:Genetic Heterogeneity; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree
chemical_list: D017931:DNA Primers