New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.
We describe 14 males from 3 successive generations in a family who have X-linked mental retardation (XLMR), obesity, gynecomastia, speech difficulties, emotional lability, tapering fingers, and small feet. Linkage analysis using markers spread along the X chromosome demonstrated a gene localisation close to the centromere. Maximum lod scores for markers near the centromere, all at theta = 0.00, were 1.36 for DXS72, and 1.46 for DXYS1. The closest flanking markers which showed recombination were DXS84 and DXS94, defining the physical localisation within Xp21.1-q22. DXS255 was fully informative with lod-1 confidence interval for theta of 0.00-0.12. Clinical findings and linkage data in this family distinguish it from the Börjeson-Forssman-Lehmann syndrome and other previously described XLMR syndromes.
Wilson
M
M
Department of Medical Genetics, Prince of Wales Children's Hospital, Randwick, Sydney, Australia.
Mulley
J
J
Gedeon
A
A
Robinson
H
H
Turner
G
G
D000293:Adolescent; D000328:Adult; D002874:Chromosome Mapping; D008040:Genetic Linkage / Q000235:genetics*; D005819:Genetic Markers / Q000235:genetics; D006177:Gynecomastia / Q000235:genetics*; D006728:Hormones / Q000378:metabolism; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome
D005819:Genetic Markers; D006728:Hormones