Interstitial deletion in Xp22.3 is associated with X linked ichthyosis, mental retardation, and epilepsy.
We describe monozygotic male twins with an interstitial deletion of Xp22.3 including the steroid sulphatase gene (STS). The twins had X linked ichthyosis, X linked mental retardation, and epilepsy. A locus for X linked mental retardation has been assigned to a region between STS and DXS31 spanning approximately 3 Mb. Recently the locus was further refined to an approximately 1 Mb region between DXS1060 and GS1. By PCR analysis of flanking STS gene markers in our patients we succeeded in narrowing down the locus to between DXS6837 and GS1.
Department of Paediatrics, University of Bonn, Germany.
B C
BC
Gohlke
K
K
Haug
M
M
Fukami
W
W
Friedl
M
M
Noeker
G A
GA
Rappold
F
F
Haverkamp
D001192:Arylsulfatases / Q000235:genetics*; D002648:Child; D004827:Epilepsy / Q000209:etiology / Q000235:genetics*; D017353:Gene Deletion; D008040:Genetic Linkage; D006801:Humans; D007057:Ichthyosis / Q000209:etiology / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D008297:Male; D043266:Steryl-Sulfatase; D014427:Twins; D014960:X Chromosome / Q000235:genetics*
D001192:Arylsulfatases; D043266:Steryl-Sulfatase