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Variable Ausprägung der Unterlippenfisteln beim Van-der-Woude-Syndrom (2000)

Opitz, Charlotte ; Witkowski, Regine ; Tinschert, Sigrid

Springer

Mund-, Kiefer- und Gesichtschirurgie 4 (2000), S. 222-227

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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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Three novel mutations of the NF1 gene detected by temperature gradient gel electrophoresis of exons 5 and 8 (1996)

Horn, Denise ; Robinson, Peter N. ; Böddrich, Annett ; [et al.]

Weinheim : Wiley-Blackwell

Electrophoresis 17 (1996), S. 1559-1563

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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.