Localization of non-specific X-linked mental retardation genes.
Gene localization was determined by linkage analysis in 5 families with non-specific X-linked mental retardation (MRX) and were MRX1, Xp11.4-q21.31; MRX10, Xp21.3-p11.4; MRX11, Xp21.3-p11.22; MRX12, Xp21.3-q21.1; and MRX13, Xp22.3-q21.22. Four of these localizations cross the dystrophin brain promoter, a candidate locus for MRX. None of the affected individuals who were tested showed variation suggestive of a deletion. No consistent clinical features were observed between or within 4 of the 5 families. In MRX12, prematurity or low birth weight, hypotelorism and short stature were seen in several affected males. Heterozygote manifestations occurred in 3 families. There was no evidence to suggest involvement of the same gene in more than one family, nor to clinically separate these families into distinct genetic entities. Non-overlapping localizations for MRX1 and MRX10 demonstrate the existence of at least 2 separate loci among these 5 families.
Kerr
B
B
Department of Medical Genetics, Prince of Wales Children's Hospital, Randwich, NSW, Australia.
Gedeon
A
A
Mulley
J
J
Turner
G
G
D002874:Chromosome Mapping; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D008126:Lod Score; D008297:Male; D010375:Pedigree; D010641:Phenotype; D014960:X Chromosome
D005819:Genetic Markers