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)

DNA analysis was carried out in 113 patients of 103 families. In 58 families (55%) deletions were found using different cDNA probes. The attempt of studying the correlation between mental retardation in patients and the exon deletions was made. Dystrophin was evaluated in 80 patients including 12 affected females. One girl had chromosomal translocation X;22 and was a true DMD case. An unusual pedigree typical of X-linked transmission with affected subjects showing clinical features of DMD but with normally expressed dystrophin is presented. Owing to DNA and dystrophin analysis the correct diagnosis in some doubtful cases of muscular dystrophies could be established and some unusual pedigrees detected.
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PMID:Interrelationship between gene, its product and phenotype in Duchenne and Becker muscular dystrophy. 831 63

We have analysed the results of clinical assessment, X-inactivation status, deletion screening and dystrophin analysis in eight manifesting carriers of Duchenne and Becker muscular dystrophy (DMD and BMD). Only two had a prior family history of X-linked muscle disease, all had normal karyotypes and none were twins. Presentation varied from 2 to 25 yr and progression varied from a DMD-like severity to a very mild BMD-like course. In one girl the initial symptoms were restricted to learning difficulties. Where methods for assessing X-inactivation were informative, three patients showed an abnormal pattern. However, in one patient, the obligate carrier daughter of a BMD patient who had presented at the age of 2 yr, X-inactivation appeared normal in lymphocytes and muscle. While dystrophin analysis seems to be reliable in identifying manifesting carriers of DMD and BMD, the relationship between X-inactivation status, dystrophin analysis and phenotype is not simple.
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PMID:Variability in clinical, genetic and protein abnormalities in manifesting carriers of Duchenne and Becker muscular dystrophy. 832 90

Duchenne/Becker muscular dystrophy (DMD/BMD) is a severe X-linked myopathy. In 65% of the patients, the mutations responsible for the disease are macrodeletions in the dystrophin-encoding gene that can be identified with multiplex polymerase chain reaction (PCR) technology. We developed a method for quantitative PCR analysis of deletion carriers involving the use of phosphorimager-based scanning of radioactive-labelled PCR products. We calculated the ratios between the areas of two peaks, one corresponding to the deleted segments to be analysed and the other taken as a reference. In carriers, these ratios (R value) were always about half those obtained in normal females. The final diagnostic result, the diagnostic index (DI), is the ratio of the R values between the propositus and a normal subject. We also assessed the variability of each step of the procedure and the overall variability of the DI value, thus obtaining cut-off values that completely discriminated BMD/DMD deletion carriers from normal females. We were also able to classify, as either 'carrier' or 'normal', several females whose status was not identified with linkage analysis.
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PMID:A quantitative polymerase chain reaction (PCR) assay completely discriminates between Duchenne and Becker muscular dystrophy deletion carriers and normal females. 873 97

X-linked non-specific mental retardation (MRX) is a heterogeneous condition in which mental retardation (MR) appears to be the only consistent manifestation. The genetic and phenotypic heterogeneity exclude any possibility of pooling families and, therefore, of fine-mapping the related disease genes. In order to identify genomic critical regions involved in the MRX condition assigned to Xp21.3-22.1 region, we have implemented the PCR screening of non fragile X MR patients for the presence of deletions in this region. The amplification by PCR of 12 markers located between POLA and DXS704 using genomic DNA from 192 MR males led to the identification, in a 9 year old mentally retarded boy, of a microdeletion which extends from DXS1202 to DXS1065. None of the known genes, POLA, MAGE genes cluster, DAX1, GK and DMD, that map in the Xp21.3-22.1 region is affected by this deletion. This approach, which could easily be applied to several other MRX loci, allowed not only a confirmation of the presence of a potential locus in Xp21.3-22.1 involved in non-specific mental retardation, but also a better definition of the genomic critical region corresponding to this locus.
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PMID:Identification by STS PCR screening of a microdeletion in Xp21.3-22.1 associated with non-specific mental retardation. 881 33

We reevaluated a family previously described as having nonspecific X-linked mental retardation (XLMR) by Snyder and Robinson [1969: Clin Pediatr 8:669-674] (MIM 309583). Clinical and DNA studies were conducted on 17 relatives, including 6 males with mild-to-moderate mental retardation, 3 carrier females, and 8 normal males. In contrast to the normal appearance and minimal clinical findings reported 22 years ago, affected males were found to have a characteristic set of clinical findings. These developed gradually over the first 2 decades, and included thin body build with diminished muscle mass, osteoporosis and kyphoscoliosis, slight facial asymmetry with a prominent lower lip, nasal speech, high narrow or cleft plate, and long great toes. Carrier females were clinically normal. Multipoint linkage analysis indicated linkage to markers distal to the 3' end of DMD (DXS41 and DXS989), with a maximal lod score of 4.7. On the basis of these findings, this entity is redefined as XLMR syndrome.
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PMID:X-linked mental retardation with thin habitus, osteoporosis, and kyphoscoliosis: linkage to Xp21.3-p22.12. 882 48

Two genes responsible for a nonspecific form of X-linked mental retardation (MRX28 and MRX33) were localized by linkage analysis with 40 highly polymorphic DNA markers situated along the entire the X chromosome. In family 1, the gene could be mapped within a 14-cM interval at Xq28, distal to the recombining marker DXS1113 (MRX28). The maximum LOD score was 2.75, with DXS52 at phi = .0. In family 2, the gene was localized within a 30-cM interval at Xp11.4-22.12 between the recombining markers DXS365 and MAOB, including the DMD gene (MRX33). Maximum LOD scores of 2.82 were obtained with markers DMD-STR49, DMD-DysII, CYBB, and DXS1068.
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PMID:Regional localization of two MRX genes to Xq28 (MRX28) and to Xp11.4-Xp22.12 (MRX33). 882 62

In 1987 a new concept in the X-linked muscular dystrophies was born with the identification of dystrophin, a cytoskeletal protein responsible for several muscular diseases previously grouped as Duchenne's or Becker's muscular dystrophies (DMD and BMD, respectively). Under the new concept these entities are referred to as dystrophinopathies. The discovery of dystrophin was made possible when polymerase chain reaction and reverse genetics opened the door to DNA examination. The DMD/BMD gene was located and sequenced and the protein product, dystrophin, was fully identified. The genetic study of dystrophinopathies was extended in the 1990's to include DNA analysis aimed at 1) discovering points of deletion or mutation that give rise to Xp21 myopathies, as dystrophinopathies are also known; 2) identifying the rules of protein translation (interruption or reading "signals" of the protein's genetic code), and 3) identifying atypical clinical phenotypes that can be diagnosed on a molecular level using anti-dystrophin antibodies or DNA probes.
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PMID:[Dystrophinopathies]. 883 54

The X-linked mouse mutant phenotype, tattered (Td), is associated with prenatal lethality of males and has been mapped previously to the proximal region of the mouse X chromosome. We report here a refined position for Td and demonstrate that it lies in the approximately 0.9-cM interval between DXMit55 and Xkh. This enables us to predict that the human homologue lies either between CLCN5 and the evolutionary breakpoint that lies between GATA1 and PFC or distal to XK and proximal to the evolutionary breakpoint that lies between XK and DMD. Histological analysis of dorsal skin taken from 5-day-old heterozygous animals revealed that the mutation was associated with patches of hyperkeratinzation in the epidermis and in the hair follicles, accompanied by a mild inflammatory infiltrate in the underlying dermis.
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PMID:The mouse X-linked developmental mutant, tattered, lies between DXMit55 and Xkh and is associated with hyperkeratinization. 892 95

A female patient with the karyotype 45,X/46, X, r(X)(p11.2 q13) and severe developmental delay, prominent fingertip pads, long palpebral fissures, short stature, and history of hypotonia had a phenotype reminiscent of Kabuki syndrome. We hypothesized that overexpression of X chromosome-derived sequences might be associated with the Kabuki-like phenotype observed. The nature and parental origin of this small-ring X were ascertained using a combination of genotyping with microsatellite markers and quantitative Southern blotting. PCR-based genotyping demonstrated heterozygosity at X-linked loci SBMA (Xq11-q12) and DXS227 (Xq13.1). Hemizygosity was observed at several loci: DMD STR-49 (Xp21.2), DXS1003 (Xp11.23), DXS988 (Xp11.21), DXS101 (Xq21.3), FMR-1 (Xq27.3), and DXYS64 (Xq28). This ring X chromosome is paternally derived since only maternal alleles are inherited at three informative microsatellite loci. Results of FISH and RT-PCR experiments indicate that the XIST locus is missing in the ring X chromosome and not expressed. These data indicated a large deletion of the X chromosome consistent with a small-ring X chromosome with approximate breakpoints near p11.2 and q13. These results are comparable to the observation of others where an atypically severe phenotype has been associated with the presence of an r(X), or small mar(X).
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PMID:Ring chromosome X in a child with manifestations of Kabuki syndrome. 912 39

Duchenne dystrophy (DMD) is an X-linked lethal condition which affects 1 in 3,500 boys. The DMD gene is deleted in about 60-65% of patients while in the remaining 35-40% the condition is caused by point mutations, small insertions, or duplications. We have ascertained 967 DMD families (680 isolated and 287 familial cases). Screening for deletions showed a molecular deletion in 383 among 615 (62.3%) analyzed cases. However, 10 families were unusual: In 7 of them, 2 or more DMD patients were related through paternal lines while in 3 others, affected boys related through maternal lines carried different mutations or originated through independent new mutation events. The finding of 10 atypical genealogies, which represent about 1% of the sample (10/967) or about 3% of familial cases (10/287) is higher than we would expect by chance. Even so, it is an underestimate because screening of mutations in all the affected DMD relatives from each genealogy is not done in many of the familial cases. It suggests that other mechanisms (such as transposon-like elements, for example) could be responsible for a higher genomic instability leading to novel mutations as reported previously by us and others in DMD and in other genetic disorders such as hemophilia and inherited peripheral neuropathies. On the other hand, it shows the importance of testing all affected patients within each genealogy to prevent possible mistakes in carrier detection, genetic counseling, and prenatal diagnosis.
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PMID:Paternal inheritance or different mutations in maternally related patients occur in about 3% of Duchenne familial cases. 971 40


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