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  • 1
    Electronic Resource
    Electronic Resource
    Muir-Torre syndrome: clinical features and molecular genetic analysis (1997)
    Oxford, UK : Blackwell Publishing Ltd
    British journal of dermatology 136 (1997), S. 0 
    Details
    ISSN: 1365-2133
    Source: Blackwell Publishing Journal Backfiles 1879-2005
    Topics: Medicine
    Notes: We report a 62-year-old man with rectal cancer, two keratoacanthomas and multiple sebaceous adenomas, epitheliomas and sebaceous hyperplasia. His brother and father died from colorectal cancer. A subgroup of patients with the Muir-Torre syndrome (MTS) is allelic to the cancer family syndrome. This genetic disorder is caused by an autosomal dominant inherited germline mutation in one of the DNA mismatch repair genes. It is thought that a somatic mutation of the other allele leads to a genomic instability responsible for tumorigenesis. In the patient presented here the instability was detected in two characteristic skin lesions; sebaceous adenoma and epithelioma. The search for a causal germline mutation revealed a frameshift mutation in the mismatch repair gene hMSH2 leading to a truncated protein. A presymptomatic molecular diagnosis can be offered to the children of the patient.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1046/j.1365-2133.1997.01805.x
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  • 2
    Electronic Resource
    Electronic Resource
    Die genetischen Grundlagen erblicher Tumorkrankheiten des Menschen (1999)
    Springer
    Der Onkologe 5 (1999), S. 855-866 
    Details
    ISSN: 1433-0415
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Für nahezu alle Krebserkrankungen gilt, daß jeweils ein relativ geringer Anteil auf einer erblichen Tumordisposition beruht. Einerseits erlaubt die Kenntnis der krankheitsverursachenden Gene in vielen Fällen, durch die genaue Charakterisierung der Mutation bei einem Betroffenen die Erblichkeit der Erkrankung zu beweisen. Andererseits ergibt sich hierdurch die grundsätzliche Möglichkeit – und das ist viel wichtiger – bei nicht erkrankten Blutsverwandten dieses Patienten festzustellen, ob sie die Mutation ebenfalls geerbt haben und damit mit hoher Wahrscheinlichkeit an einem Tumor erkranken werden.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s007610050542
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  • 3
    Electronic Resource
    Electronic Resource
    Erblich bedingte gastrointestinale Tumorerkrankungen (1999)
    Springer
    Der Internist 40 (1999), S. 502-512 
    Details
    ISSN: 1432-1289
    Keywords: Schlüsselwörter Tumoren ; gastrointestinale ; Kolorektales Karzinom ; Genetik ; Familiäre adenomatöse Polysposis (FAP) ; Magenkarzinom ; Genetik ; Peutz-Jeghers-Syndrom ; Familiäre juvenile Polyposis ; Cowden-Syndrom
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Zum Thema Die kolorektalen Karzinome zählen zu den am besten untersuchten Tumoren, da sie vom frühen Adenom bis zum metastasierenden Karzinom endoskopischer Untersuchung und besser zugänglich sind als andere solide Tumoren. Die erbliche Disposition beruht auf der Annahme, daß autosomal codierende Gene in jeweils 2 Allelen vorhanden sind. Über die Keimbahn vererbte Veränderungen in Tumorsuppressor-Genen eines Allels werden zunächst durch das zweite Allel kompensiert. Fällt auch dieses aus, z.B. durch eine somatische Mutation, resultiert ein Funktionsausfall und somit unkontrolliertes Zellwachstum und Tumorentstehung. Auch andere molekulare Mechanismen spielen eine wichtige Rolle bei der gastrointestinalen Tumorgenese, da Magen- und Darmschleimhaut eine sehr hohe Zellproliferation haben und somit leichter Störungen im Zellgleichgewicht zwischen Proliferation und programmiertem Zelltod (Apoptose) auftreten können. In dieser Arbeit über genetisch bedingte gastrointestinale Tumorerkrankungen werden die familiäre adenomatöse Polyposis (FAP), das autosomal-dominante erbliche nicht polypöse Kolonkarzinom (HNCPP), die hamartomatösen Polyposen (Peutz-Jeghers-Syndrom, familiäre juvenile Polyposis, Cowden-Syndrom) und das familiäre Magenkarzinom behandelt.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s001080050364
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  • 4
    Electronic Resource
    Electronic Resource
    Attenuated familial adenomatous polyposis due to a mutation in the 3′ part of the APC gene. A clue for understanding the function of the APC protein (1996)
    Springer
    Human genetics 〈Berlin〉 97 (1996), S. 579-584 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The identification of germline mutations in a large number of clinically well-characterised patients with familial adenomatous polyposis (FAP) has allowed the unravelling of several genotype-phenotype relationships that can now be interpreted in the light of the structure and functional domains of the adenomatous polyposis coli (APC) protein. An attenuated phenotype has been found to be associated with mutations at the 5′ end of the gene, while a severe clinical expression was found in patients with the most common mutation at codon 1309. So far, only few mutations in the 3′ half of the gene have been published. We report on two families with a rather mild phenotype due to a frameshift mutation at codon 1597. These families may represent a clue for defining a 5′ border for the occurrence of a second region of attenuated FAP that is localised in the 3′ part of the APC gene. We propose a model to explain the relationship between the severity of the disease and the size of the mutant APC protein.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02281864
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  • 5
    Electronic Resource
    Electronic Resource
    Human adenosine A2a receptor (A2aAR) gene: systematic mutation screening in patients with schizophrenia (1996)
    Springer
    Journal of neural transmission 103 (1996), S. 1447-1455 
    Details
    ISSN: 1435-1463
    Keywords: Adenosine A2a receptor ; candidate gene ; schizophrenia ; single-strand conformational analysis ; genetic variation ; association study
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary Several lines of evidence suggest an involvement of adenosine A2a receptor (A2aAR) mediated adenosinergic neuromodulation in the etiopathogenesis of schizophrenia. We therefore perfomed a systematic mutation scan of the complete coding region of the human A2aAR gene in a sample of 42 schizophrenic patients. We detected one rare naturally occurring receptor variant (Gly-340-Ser) and two silent mutations (405C/T and 1083C/T). To our knowledge the Gly-340-Ser substitution is the first naturally occurring molecular variant of the A2aAR identified. Determining the frequency of the three variants in 42 unrelated healthy controls, we observed a significant trend towards an overrepresentation of the 1083T variant in patients when compared to controls (p=0.041). This trend was followed up in a large independent replication sample. However, we were not able to confirm the original trend in the second sample (p=0.367). The Ser-340 variant was found in a single schizophrenic individual. Investigation of the patient's family revealed independent segregation between the Ser-340 variant and psychiatric illness. Our data suggest that genetically determined structural variation of the A2aAR does not play a major role in the development of schizophrenia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF01271259
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  • 6
    Electronic Resource
    Electronic Resource
    Genetic linkage analysis with dyslexia: Evidence for linkage of spelling disability to chromosome 15 (1999)
    Springer
    European child & adolescent psychiatry 8 (1999), S. S056 
    Details
    ISSN: 1435-165X
    Keywords: Key words Dyslexia – chromosome 15 – chromosome 6 – linkage analysis – spelling disability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Dyslexia (reading and spelling disability) is one of the most frequently diagnosed disorders in childhood. Twin studies of dyslexia have indicated that deficits in spelling are substantially heritable and that the heritability of spelling deficits is higher than the heritability of reading deficits. We conducted a linkage study for spelling disability in seven multiplex families from Germany. Following previously reported linkage findings of components of dyslexia to chromosome 6p21–p22 and 15q21, we genotyped 26 microsatellite markers covering all of chromosome 6, and 13 microsatellite markers covering all of chromosome 15. While the chromosome 6 data were negative, results from chromosome 15 markers supported a locus on 15q21. The highest two-point LOD score was 1.26 with marker D15S143 at θ = 0. A multipoint LOD score of 1.78 (p = 0.0042) was achieved with a maximum at D15S132. Thus, our results provide independent support for a dyslexia gene on the long arm of chromosome 15.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/PL00010696
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