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  • 1
    Electronic Resource
    Electronic Resource
    Two novel mutations in exons 19a and 20 and a BsaI polymorphism in a newly characterized intron of the neurofibromatosis type 1 gene (1998)
    Springer
    Human genetics 〈Berlin〉 102 (1998), S. 367-371 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder. It is caused by mutations in the NF1 gene, which comprises 60 exons and is located on chromosome 17q11.2. A total of 170 unrelated NF1 patients were screened for mutations in four exons by temperature-gradient gel electrophoresis. Preparatory work revealed the presence of a previously uncharacterized intron (19a) in what was previously designated exon 19; this allowed us to develop assays for genomic mutation screening in the newly defined exons 19a and 19b. Two novel NF1 mutations were detected: a single-base insertion in exon 19a creating a frameshift, and a second mutation affecting the splice donor site of intron 20 and leading to skipping of exon 20. A novel BsaBI polymorphism was identified in intron 19a.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s004390050706
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  • 2
    Electronic Resource
    Electronic Resource
    SCA2 trinucleotide expansion in German SCA patients (1997)
    Springer
    Neurogenetics 1 (1997), S. 59-64 
    Details
    ISSN: 1364-6753
    Keywords: Keywords: spinocerebellar ataxia, SCA2, trinucleotide repeat expansion, octogenarians, repeat instability
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: ABSTRACT Autosomal dominant spinocerebellar ataxias (SCA) are a group of clinically and genetically heterogeneous neurodegenerative disorders which lead to progressive cerebellar ataxia. A gene responsible for SCA type 2 has been mapped to human chromosome 12 and the disease causing mutation has been identified as an unstable and expanded (CAG)n trinucleotide repeat. We investigated the (CAG)n repeat length of the SCA2 gene in 842 patients with sporadic ataxia and in 96 German families with dominantly inherited SCA which do not harbor the SCA1 or MJD1/SCA3 mutation, respectively. The SCA2 (CAG)n expansion was identified in 71 patients from 54 families. The (CAG)n stretch of the affected allele varied between 36 and 64 trinucleotide units. Significant repeat expansions occurred most commonly during paternal transmission. Analysis of the (CAG)n repeat lengths with the age of onset in 41 patients revealed an inverse correlation. Two hundred and forty-one apparently healthy octogenerians carried alleles between 16 and 31 repeats. One 50-year old, healthy individual had 34 repeats; she had transmitted an expanded allele to her child. The small difference between ‘normal’ and disease alleles makes it necessary to define the extreme values of their ranges. With one exception, the trinucleotide expansion was not observed in 842 ataxia patients without a family history of the disease. The SCA2 mutation causes the disease in nearly 14% of autosomal dominant SCA in Germany.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100480050009
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  • 3
    Electronic Resource
    Electronic Resource
    Variable Ausprägung der Unterlippenfisteln beim Van-der-Woude-Syndrom (2000)
    Springer
    Mund-, Kiefer- und Gesichtschirurgie 4 (2000), S. 222-227 
    Details
    ISSN: 1434-3940
    Keywords: Schlüsselwörter LK(G)-Spalte ; Unterlippenfisteln ; Mikroformen ; Wiederholungsrisiko ; Keywords Cleft lip and palate ; Lip pits ; Microforms of lip pits ; Recurrence risk
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Eight families with the combination of cleft lip and/or cleft palate plus lower lip pits including their microforms were examined with the aim of characterization of microsymptoms. Hypodontia as a further symptom was also taken into consideration. Each of the symptoms was also noted separately in relatives of the patients and are to be considered as a genetic equivalent of the complete form of the autosomal-dominant inherited Van der Woude’s syndrome. Knowledge of the variable expression of the basic gene is crucial for risk assessment in family counselling and also for distinguishing from clefts of other genesis with lower recurrence risk.
    Notes: Mit dem Ziel der Charakterisierung von Mikrosymptomen wurden die Familien von 8 Patienten mit der Kombination von Lippen-Kiefer- und/oder Gaumenspalten und Unterlippenfisteln, einschließlich der jeweiligen Mikroformen, untersucht. Berücksichtigung fand auch die Hypodontie als weiteres Merkmal. Jedes dieser Symptome war bei Verwandten der Patienten auch isoliert zu beobachten und ist als genetisches Äquivalent des kompletten Van-der-Woude-Syndroms im Sinne eines autosomal-dominanten Erbgangs anzusehen. Die Kenntnis der variablen Expressivität beim Van-der-Woude-Syndrom ist für die Risikoeinschätzung in der genetischen Beratung und für die Abgrenzung von Spaltbildungen anderer Genese und geringem Wiederholungsrisiko von Bedeutung.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/s100060000162
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  • 4
    Electronic Resource
    Electronic Resource
    Two recurrent nonsense mutations and a 4 bp deletion in a quasi-symmetric element in exon 37 of the NF1 gene (1995)
    Springer
    Human genetics 〈Berlin〉 96 (1995), S. 95-98 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract We screened a total of 92 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exon 37 of the NF1 gene, by using temperature gradient gel electrophoresis. Two novel mutations were found: a 4 bp deletion in a so-called quasi-symmetric element (6789delTTAC) and a recurrent nonsense mutation, which was identified in two unrelated patients, at codon 2264 (C6792A). The independent origin of the latter mutation in two families was confirmed by haplotype analysis. The nonsense mutation and the 4 bp deletion are both predicted to lead to a truncated protein product lacking the Cterminal 20% (aproximately) of its sequence. The occurrence of three independent mutations among 92 NF1 patients at codons 2263–2264 (exon 37) suggests that a specific search for mutations in this area should be undertaken in screening programs for NF1 mutations.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00214193
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  • 5
    Electronic Resource
    Electronic Resource
    Maternal serum alpha-fetoprotein screening for neural tube defects and other disorders using an ultramicro-ELISA (1986)
    Springer
    Human genetics 〈Berlin〉 73 (1986), S. 60-63 
    Details
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary In Cuba and in the German Democratic Republic (GDR) a total of 24,412 pregnant women were tested for maternal serum alpha-fetoprotein (MSAFP) at the 16th to 20th week of gestation. An inexpensive and partly automated ultramicroliter enzyme immunoassay (ELISA) with final volumes of 10μl was used to analyze simultaneously 50 samples. The intraassay coefficient of variation (CV) of 5–8% and day/day CVs of 6–10.5% were obtained with a test frequency of 320 assays/day. A cut-off level of twice the median value (MoM) was chosen. An amniocentesis was done in a total of 0.5% (in the GDR) and 0.7% (in Cuba) of the screened women. The prevalence of open neural tube defects (ONTD) was calculated from the present study and was 1.43‰ in Cuba and 1.34‰ in the GDR. Through MSAFP screening 88.2% ONTD were detected. There was no therapeutic abortion of a normal fetus. The approximate cost for this program was about 2.36 marks-GDR per patient screened, or about 2,048 marks per ONTD detected.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00292665
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  • 6
    Electronic Resource
    Electronic Resource
    Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8 (1996)
    Weinheim : Wiley-Blackwell
    Electrophoresis 17 (1996), S. 1559-1563 
    Details
    ISSN: 0173-0835
    Keywords: Temperature gradient gel electrophoresis ; Denaturing gradient gel electrophoresis ; Neurofibromatosis gene ; Mutation analysis ; Exon skipping ; Chemistry ; Biochemistry and Biotechnology
    Source: Wiley InterScience Backfile Collection 1832-2000
    Topics: Biology , Chemistry and Pharmacology
    Notes: We screened a total of 100 unrelated patients with neurofibromatosis type 1 (NF1) for mutations in exons 5 and 8 of the NF1 gene using temperature gradient gel electrophoresis (TGGE). Careful interpretation of exon 5 TGGE patterns was necessary due to interference by an exonic polymorphism. Three novel mutations were identified: a stop mutation in exon 5 (Q239X) caused by a C→T transition at cDNA nucleotide position 715, a transition at the invariant G of the splice accceptor site in intron 4c (G655-1A), and a transversion at the invariant G of the splice donor site in intron 8 (G1185+1T). Analysis of mRNA revealed the predicted abnormal splice products. While skipping of exon 5 causes a shift in the reading frame with a premature stop codon downstream in the middle of exon 6, skipping of exon 8 leads to an in-frame deletion with the predicted protein product being shortened by 41 amino acids.
    Additional Material: 3 Ill.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1002/elps.1150171011
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