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High resolution deletion analysis of conctitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Department of Otorhinolaryngology and Head and Neck Surgery, Uppsala University Hospital, Uppsala, Sweden.
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
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2001 (English)In: Human Molecular Genetics, ISSN 0964-6906, E-ISSN 1460-2083, Vol. 10, no 3, 271-282 p.Article in journal (Refereed) Published
Abstract [en]

Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder whose hallmark is bilateral vestibular schwannoma. It displays a pronounced clinical heterogeneity with mild to severe forms. The NF2 tumor suppressor (merlin/schwannomin) has been cloned and extensively analyzed for mutations in patients with different clinical variants of the disease. Correlation between the type of the NF2 gene mutation and the patient phenotype has been suggested to exist. However, several independent studies have shown that a fraction of NF2 patients with various phenotypes have constitutional deletions that partly or entirely remove one copy of the NF2 gene. The purpose of this study was to examine a 7 Mb interval in the vicinity of the NF2 gene in a large series of NF2 patients in order to determine the frequency and extent of deletions. A total of 116 NF2 patients were analyzed using high-resolution array-comparative genomic hybridization (CGH) on an array covering at least 90% of this region of 22q around the NF2 locus. Deletions, which remove one copy of the entire gene or are predicted to truncate the schwannomin protein, were detected in 8 severe, 10 moderate and 6 mild patients. This result does not support the correlation between the type of mutation affecting the NF2 gene and the disease phenotype. This work also demonstrates the general usefulness of the array-CON methodology for rapid and comprehensive detection of small (down to 40 kb) heterozygous and/or homozygous deletions occurring in constitutional or tumor-derived DNA.

Place, publisher, year, edition, pages
Oxford, United Kingdom: Oxford University Press, 2001. Vol. 10, no 3, 271-282 p.
National Category
Medical and Health Sciences Medical Genetics
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URN: urn:nbn:se:oru:diva-47772DOI: 10.1093/hmg/10.3.271ISI: 000166788800013PubMedID: 11159946Scopus ID: 2-s2.0-0035252636OAI: oai:DiVA.org:oru-47772DiVA: diva2:897783
Available from: 2016-01-26 Created: 2016-01-26 Last updated: 2017-10-17Bibliographically approved

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