Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.1.6.1 (sulfatase)
 3,205 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Contiguous gene syndromes are an interesting clinical phenomenon, resulting from interstitial or terminal deletions of several adjacent genes. The phenotype results in a combination of two or more monogenic disorders and relates clinical findings to corresponding genotypes. We present the case of a male patient with Kallmann syndrome (KS), X-linked ichthyosis (XLI) and X-linked mental retardation (MRX). He was referred at the age of 15.4 years for delayed puberty and obesity. He had a previous history of pyloric stenosis, bilateral orchidopexy and surgical correction of a pes equinovarus adductus. On physical examination, generalised ichthyosis and hypoplastic external genitalia were found. KS was evident with hypogonadotropic hypogonadism, hyposmia and a hypoplastic anlage of the olfactory tract in magnetic resonance imaging. Lipoprotein electrophoresis, and lack of steroid sulfatase and arylsulfatase-C activity in leucocytes confirmed XLI. DNA investigation established an interstitial deletion in Xp22.3 involving the Kallmann (KAL) gene, the steroid sulfatase (STS) gene and a putative mental retardation locus (MRX). The novel MRX locus maps to a 1-Mb region between DXS1060 and GS1.
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PMID:Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. 972 39

Sulfation plays a major role in regulating the activity of various neurosteroids, including pregnenolone and dehydroepiandrosterone. The present report describes the immunohistochemical distribution of two enzymes involved in the control of neurosteroid sulfation, hydroxysteroid sulfotransferase (HST) and unconjugated steroid enzyme sulfatase (STS), in the brain of the European green frog Rana esculenta during development. HST and STS immunoreactivity were detected from stage VIII-XII. At this early stage, HST-positive fibers were seen in the glomerular layer and the basal rhombencephalon. Subsequently, at stage XIII-XV, HST- and STS-immunoreactive fibers were vizualized in the accessory olfactory bulb. At stage XVI-XVIII, STS-positive cell bodies were observed in the periventricular region of the diencephalon. These observations indicate that the enzymes controlling sulfation of hydroxysteroids are expressed in the frog brain during development.
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PMID:Immunohistochemical localization of hydroxysteroid sulfotransferase and sulfatase in the brain of Rana esculenta tadpoles. 1945 61

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.
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PMID:Genetic analysis of a 12-year-old boy with X-linked ichthyosis in association with sclerosing glomerulonephritis. 2393 49