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.
Gohlke
B C
BC
Department of Paediatrics, University of Bonn, Germany.
Haug
K
K
Fukami
M
M
Friedl
W
W
Noeker
M
M
Rappold
G A
GA
Haverkamp
F
F
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