LETTER TO JMG

Constitutional rearrangements of chromosome 22 as a cause of neurofibromatosis 2

T Tsilchorozidou¹, F H Menko², F Lalloo³, A Kidd⁷, R De Silva⁴, H Thomas⁴, P Smith³, A Malcolmson³, J Dore³, K Madan², A Brown⁷, J G Yovos¹, M Tsaligopoulos⁵, N Vogiatzis⁶, ME Baser, A J Wallace³, D G R Evans³

¹ Department of Endocrinology, Diabetes and Metabolism, AHEPA University Hospital, Thessaloniki, Greece
² Department of Clinical Genetics and Human Genetics, VU University Medical Center, Amsterdam, the Netherlands
³ Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary’s Hospital, Manchester, UK
⁴ Department of Neurology, Oldchurch Hospital, Romford, Essex, UK
⁵ Department of Otorhinolarygology and Hearing Impairment, AHEPA University Hospital, Thessaloniki, Greece
⁶ Department of Paediatrics and Medical Genetics, AHEPA University Hospital, Thessaloniki, Greece
⁷ Department of Medical Genetics, Wellington Hospital, Wellington, New Zealand

Correspondence to:
Correspondence to:
Professor D G R Evans
Academic Unit of Medical Genetics and Regional Genetics Service, St. Mary’s Hospital, Manchester M13 0JH, UK; gareth.evans@cmmc.nhs.uk

Received 19 December 2003

Accepted 19 December 2003

Abbreviations: CT, computed tomography; MRI, magnetic resonance imaging; NF2, neurofibromatosis type 2; SSCP, single strand conformation polymorphism analysis

Keywords: ring chromosome 22; NF2; FISH; translocation; Léri-Weill dysosteochondrosis

The first 150 words of the full text of this article appear below.

Neurofibromatosis type 2 (NF2) is an autosomal dominant condition characterised by vestibular schwannomas, schwannomas of other cranial nerves, meningiomas, and other low grade brain malignancies.¹ The severity of NF2 is variable, with some patients having early onset disease and more rapidly growing tumours that occur in greater numbers. The NF2 gene is on chromosome 22q12.^2,3 The protein product (termed merlin or schwannomin) is a cell cytoskeleton associating protein. Genotype–phenotype correlations have been demonstrated, with missense mutations and large deletions causing mild disease, and nonsense or frameshift mutations causing severe disease.^4,5

The current mutation screening techniques of single strand conformation polymorphism analysis (SSCP), protein truncation test, and denaturing gradient gel electrophoresis detect 33–65% of mutations, although adding a deletion strategy increases the proportion to 80%.⁶ However, deletion testing and chromosome analysis are rarely reported in studies of NF2 mutations. In this study, we present five NF2 patients for whom chromosome analysis, . . . [Full text of this article]

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