lunes, 9 de septiembre de 2013

European Journal of Human Genetics - Clinical utility gene card for: von Hippel-Lindau (VHL)

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European Journal of Human Genetics - Clinical utility gene card for: von Hippel-Lindau (VHL)

Clinical Utility Gene Card

European Journal of Human Genetics advance online publication 28 August 2013; doi: 10.1038/ejhg.2013.180

Clinical utility gene card for: von Hippel–Lindau (VHL)

Jochen Decker1, Christine Neuhaus2, Fiona Macdonald3, Hiltrud Brauch4 and Eamonn R Maher3,5
  1. 1Clinic III—Hematology and Oncology, Medical School of Johannes Gutenberg University, Mainz, Germany
  2. 2Bioscientia, Center for Human Genetics, Ingelheim, Germany
  3. 3Birmingham Women’s Hospital—West Midlands Regional Genetics Laboratory, Birmingham, UK
  4. 4Dr Margarete Fischer-Bosch-Institute of Clinical Pharmacology, Stuttgart and University Tuebingen, Tuebingen, Germany
  5. 5Department of Medical Genetics, University of Cambridge, Cambridge, UK
Correspondence: Professor Dr J Decker, Clinic III—Hematology and Oncology, Medical School of Johannes Gutenberg University, Building 911 for Research and Development, Obere Zahlbacher Street 63, Mainz D 55131, Germany. Tel: +49 6131 277 94 51; Fax: +49 6131 277 94 52; E-mail: decker@uni-mainz.de
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1. Disease characteristics

1.1 Name of the disease (synonyms)

von Hippel–Lindau Syndrome (VHL).

1.2 OMIM# of the disease

193300.

1.3 Name of the analyzed genes or DNA/chromosome segments

VHL (3p25.3).1

1.4 OMIM# of the gene(s)

(i) 608537 von Hippel–Lindau (VHL) and (ii) 168461 cyclin D1 gene (CCND1), a potential modifier of VHL.

1.5 Mutational spectrum

VHL mutations have been identified in all the three exons. About 30–60% are missense mutations, 20–40% large intragenic deletions (0.5–250kb), 12–20% microdeletions or insertions and 7–11% nonsense mutations.2, 3, 4, 5 Genotype–phenotype correlations (see section 2.5 Positive clinical predictive value) have been described. Some hotspot/founder mutation have been reported.6 No mutations have been reported in the first 53 amino acids of pVHL.3, 5
For the standard reference sequence in relation to the variants reported, a RefSeqGene record, for example, NCBI Reference Sequence: NM_000551.3, should be applied.
VHL gene variants can be found in the Human Gene Mutation Database. It is important for DNA diagnostics to share all new findings through this or similar databases.

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