Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UNIPROT:Q00604 (X-linked)
 16,883 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We describe a 3-year-old boy and his 2 maternal uncles with moderate to severe mental retardation, short stature, mild obesity, hypogonadism, a low total finger ridge count, and a distinctive face characterized by bitemporal narrowness, almond-shaped palperbral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia. Two other males in this family who had similar facial anomalies and developmental delay died in early infancy and midchildhood. This apparently new disorder is reminiscent of, but distinct from, the Prader-Willi syndrome, and is likely inherited as an X-linked recessive trait. Preliminary studies with DNA probes are consistent with an X-linked locus and permit exclusion of distal Xp and Xq regions as the site of this mutation.
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PMID:Mental retardation, distinct facial changes, short stature, obesity, and hypogonadism: a new X-linked mental retardation syndrome. 323 63

Carrier women in a family with X-linked incomplete achromatopsia (XLIA) were evaluated by means of ophthalmologic examinations, psychophysical tests, and electroretinography (ERG). Ophthalmologic examinations of five obligate carrier women and three women at 50% risk were normal except for the finding of high myopia in one carrier and one woman at risk. Detailed color vision testing was normal in all eight women. By contrast, the corneal full-field ERGs of three of five obligate carriers and two of three women at risk displayed major, qualitatively similar abnormalities of their cone components that were readily detected by our quantitative method. These b-wave alterations were similar in all five women regardless of refractive error. Our findings suggest that the ERG can identify some women who carry the gene for this X-linked recessive condition who are normal by clinical and psychophysical testing.
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PMID:Heterozygote detection in X-linked recessive incomplete achromatopsia. 326 10

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disease characterized by immunodeficiency and severe thrombocytopenia in affected males, but no demonstrable clinical abnormalities in carrier females. Through analysis of the methylation patterns of X-linked genes that display restriction fragment length polymorphisms (RFLPs), we studied the pattern of X-chromosome inactivation in various cell populations from female relatives of patients with WAS. The peripheral blood T cells, granulocytes, and B cells of eight obligate WAS carriers were found to display specific patterns of X-chromosome inactivation clearly different from these of normal controls. Thus, carriers of WAS could be accurately identified using this analysis.
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PMID:Carrier detection in the Wiskott Aldrich syndrome. 326 54

The clinical manifestations of amelogenesis imperfecta (AI) were described in 165 individuals from 51 families. The inheritance pattern for AI in these families had previously been investigated, and it was hypothesized that AI probably is solely an autosomal dominant (AD) or X-linked trait. To test this hypothesis the connection between clinical manifestation and inheritance pattern was studied. Eight different variants of AI were seen. In 33/51 families all affected individuals could be assigned to the same clinical variant. In 8/51 families those affected were assigned to different clinical variants. In the two families where an X-linked recessive (XR) inheritance pattern was found probable, the clinical manifestation differed between women and men. Except for one variant only seen as an AD trait, and the manifestation in women in families with an X-linked recessive inheritance pattern, no connection was found between a specific inheritance pattern and a specific clinical manifestation. Accordingly it seems likely that AI is solely an AD or X-linked trait. The different clinical variants observed should be regarded as a varying expressivity of the gene and in the families with X-linked inheritance probably due to lyonization. In the remaining families the modifying mechanisms are not known.
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PMID:Amelogenesis imperfecta--clinical manifestations in 51 families in a northern Swedish county. 326 21

Duchenne muscular dystrophy (DMD) is the most common and the most severe of the muscular dystrophies in man. It is inherited as an X-linked recessive trait and is characterized by ongoing necrosis of skeletal muscle fibres with regeneration and eventually fibrosis and fatty infiltration. Although the gene and gene product which are defective in DMD have recently been identified, the pathogenesis of the disease is still poorly understood. A myopathy has been described in the dog which has been shown to be inherited as an X-linked trait and which is therefore a potential model of the human disease. We have studied the phenotypic expression of the disease, canine X-linked muscular dystrophy (CXMD), and have examined the molecular relationship between it and DMD. We report here that dogs with CXMD faithfully mimic the phenotype of Duchenne muscular dystrophy and that they lack the Duchenne gene transcript and its protein product, dystrophin.
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PMID:The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs. 329 Jun 91

The In(Lu) gene, which inhibits the expression of Lutheran blood group antigens by red cells (RBCs), also down-regulates the expression of an 80-kD glycoprotein, In(Lu)-related p80, by both RBCs and a subset of white cells. This study examined the expression of multiple-RBC p80 epitopes by autosomal and X-linked recessive-type Lu(a-b-) RBCs in order to explore the relationship, if any, between expression of In(Lu)-related p80 and Lutheran antigens. Both autosomal and X-linked types of recessive Lu(a-b-) RBCs expressed near-normal to increased amounts of p80 antigens, as measured by radioimmunoassay. P80 from both types of recessive Lu(a-b-) RBCs had apparently normal molecular weight in denaturing polyacrylamide gels and showed normal sensitivity to digestion by trypsin and chymotrypsin. Thus, the absence of Lutheran antigens on recessive-type Lu(a-b-) RBCs is not associated with decreased or absent p80 antigens. Furthermore, the XS2 gene probably does not act via a mechanism similar to that of the In(Lu) gene, since the expression of p80 remains undiminished in X-linked recessive-type Lu(a-b-) RBCs.
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PMID:Human red cell antigens. V. Expression of In(Lu)-related p80 antigens by recessive-type Lu(a-b-) red cells. 342 Jun 70

I describe a simulation method to estimate the power to detect linkage given a set of pedigrees of known structure and for which family history data may be available. This method can be applied to autosomal and X-linked dominant diseases; depending on the pedigrees under consideration, it will often be applicable for autosomal and X-linked recessive diseases. This power calculation can most usefully be undertaken after family history data are gathered, but prior to examination and testing of pedigree members to obtain marker information. Of key importance, the power calculation is straightforward to carry out and not too time-consuming; it is practical even on a microcomputer. The result of the power calculation is an objective answer to the question: Will my families be sufficient to demonstrate linkage?
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PMID:Estimating the power of a proposed linkage study: a practical computer simulation approach. 346 3

We describe a large family (K313) having 12 males affected with X chromosome-linked recessive hereditary spastic paraplegia (HSP). The disease phenotype in K313 is characterized by hyperreflexia and a spastic gait, but intelligence is normal. Carrier females have normal gait and unremarkable neurologic profiles. Eight widely spaced X-linked DNA markers were used to genotype 43 family members. In contrast to a published study of another family, in whom complete linkage of X-linked recessive HSP to distal chromosome Xq markers DXS15 and DXS52 was reported, we observed complete linkage with two DNA markers, pYNH3 and DXS17, located on the middle of the long arm of the X chromosome. These data have been combined with linkage data from a large reference panel of normal families to localize the new X-chromosome marker, pYNH3, and to provide evidence of significant locus heterogeneity between phenotypically distinct forms of X-linked recessive HSP.
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PMID:Etiological heterogeneity in X-linked spastic paraplegia. 347 19

Responsiveness of B cells from X-linked immunodeficient CBA/N and DBA/2Ha mice to the B cell growth factor-1 (BCGF-I or BSF-1) and B cell differentiation factors (B151-TRF1 and B151-TRF2) was comparatively studied. B cells from CBA/N mice did not respond to BSF-1 in the presence of soluble anti-mu antibody. However, the BSF-1-response of CBA/N B cells was detected when activated by the anti-mu antibody-coupled Sepharose-beads. In the B151-TRF1 assay, antigen-unprimed B cells from CBA/N mice failed to respond to B151-TRF1, whereas antigen-primed B cells became responsive to B151-TRF1. In the B151-TRF2 assay, CBA/N B cells were non-responder to B151-TRF2. In these assays, however, unprimed CBA/N B cells were able to absorb both B151-TRF1- and B151-TRF2-activities to the same extent as the non-defective strain B cells. These results indicate that B cell defect in CBA/N mice may be reflected by some abnormality in signal transmission at encounter to the B cell-stimulating factors but not by inability to bind these factors. These low responder properties of CBA/N B cells were all inherited in an X-linked recessive manner. In contrast, B cells from DBA/2Ha mice well responded to BSF-1 and B151-TRF2, whereas both antigen-unprimed and -primed DBA/2Ha B cells failed to respond to B151-TRF1. This selective B151-TRF1-unresponsiveness of DBA/2Ha B cells was also controlled by an X-linked recessive inheritance. Moreover, in contrast to CBA/N mice, selective unresponsiveness of B cells to B151-TRF1 in DBA/2Ha mice was reflected by the absence of B151-TRF1-receptor expression, as demonstrated by absorption experiment. The B cell populations found in these two distinct X-linked immunodeficient mice may provide an useful experimental model for analyzing B cell activation process mediated by various B cell stimulation factors.
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PMID:Comparative studies on B cell reactivities in two X-linked immunodeficient mice to the B cell-stimulating factors. 348 43

Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequences on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.
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PMID:Submicroscopic interstitial deletion of the X chromosome explains a complex genetic syndrome dominated by Norrie disease. 350 89


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