Family MRX9 revisited: further evidence for locus heterogeneity in MRX.
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.
Winnepenninckx
Birgitta
B
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
Errijgers
Vanessa
V
Reyniers
Edwin
E
De Deyn
Peter P
PP
Abidi
Fatima E
FE
Schwartz
Charles E
CE
Kooy
R Frank
RF
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
D017931:DNA Primers