Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis.

Abstract

In this study, we report the case of a 12-year-old male with X-linked ichthyosis (XLI) in association with glomerular sclerosis, and our investigation into the deletion pattern of the STS gene and the flanking regions in DNA samples of family members. We observed no features typical of renal osteodystrophy or rickets, with the exception of short stature, in the three afffected male family members. Audiometry, visual acuity and olfactory sensation were normal. By performing PCR analysis of the steroid sulfatase (STS) gene and flanking regions on our patients, we discovered a complete deletion that involved the entire region from DXS1139 to DXF22S1. Further studies are required to determine whether the STS gene or the co-deleted flanking sequences are the cause of renal disease associated with XLI.

• Authors: Yijin Song, Jing Chen, Zhuwen Yi, Xiqiang Dang, Dehua Cheng, Xiaochuan Wu, Yueqiu Tan
• Journal: Molecular medicine reports (Mol Med Rep) Vol. 8 Issue 4 Pg. 1183-7 (Oct 2013) ISSN: 1791-3004 [Electronic] Greece
• PMID: 23939749 (Publication Type: Case Reports, Journal Article)

Chemical References

• Steryl-Sulfatase

Topics

• Child
• DNA Mutational Analysis
• Genetic Association Studies
• Glomerulosclerosis, Focal Segmental (diagnosis, enzymology, genetics)
• Humans
• Ichthyosis, X-Linked (diagnosis, enzymology, genetics)
• Male
• Pedigree
• Sequence Deletion
• Skin (pathology)
• Steryl-Sulfatase (genetics)