Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions
Corresponding Author
Shin-Ichiro Nishimura M.D.
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Department of Pediatrics, Hiroshima University School of Medicine, 1–2–3 Kasumi, Minami-ku, Hiroshima 734, JapanSearch for more papers by this authorHiroyuki Masuda
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorTakahiko Matsumoto
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorNobuo Sakura
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorTomoaki Matsumoto
Department of Child Development, Kumamoto University Medical School, Kumamoto, Japan
Search for more papers by this authorKazuhiro Ueda
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorCorresponding Author
Shin-Ichiro Nishimura M.D.
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Department of Pediatrics, Hiroshima University School of Medicine, 1–2–3 Kasumi, Minami-ku, Hiroshima 734, JapanSearch for more papers by this authorHiroyuki Masuda
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorTakahiko Matsumoto
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorNobuo Sakura
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorTomoaki Matsumoto
Department of Child Development, Kumamoto University Medical School, Kumamoto, Japan
Search for more papers by this authorKazuhiro Ueda
Department of Pediatrics, Hiroshima University School of Medicine, Hiroshima, Japan
Search for more papers by this authorAbstract
We report contiguous gene deletions in the distal short arm of the X chromosome in two patients with ichthyosis, due to steroid sulfatase deficiency, and other complex phenotypes. One patient had chondrodysplasia punctata (CDP) and ichthyosis with a normal chromosome constitution. Another patient had a CDP-like phenotype, ichthyosis, and hypogonadism. His karyotype was 46, -X,Y, + der(X)t(X;Y)(p22;q11). DNA from the two patients was analyzed by Southern blotting using cloned fragments mapped in the Xp21-Xpter region to investigate gene deletions. DNA from the patient with CDP showed a gene deletion of the STS, DXS31, and DXS89 loci, and DNA from the patient with X-Y trans-location lacked fragments of the STS, DXS31, DXS89, and DXS143 loci. These findings suggest that the common deleted region involving the STS locus might have caused the similar phenotypes in both patients.
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