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Neurofibromatosis 2 in a patient with a de novo balanced reciprocal translocation 46,X,t(X;22)(p11.2;q11.2)
  1. C Bovie1,
  2. S T Holden1,
  3. A Schroer1,
  4. E Smith2,
  5. D Trump1,
  6. F L Raymond1
  1. 1Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
  2. 2Cytogenetics Laboratory, Regional Genetics Service, Addenbrooke’s Hospital, Cambridge
  1. Correspondence to:
 Dr F L Raymond, Cambridge Institute for Medical Research, Department of Medical Genetics, University of Cambridge, Addenbrooke’s Hospital, Cambridge CB2 2XY, UK;
 flr24{at}cam.ac.uk

https://doi.org/10.1136/jmg.40.9.682

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    Neurofibromatosis 2 (NF2) is an autosomal dominant disease associated with mutations in the gene NF2.1 In clinical practice, the diagnosis is made if a patient satisfies the 1987 National Institutes of Health diagnostic criteria, which are either the presence of bilateral vestibular schwannomas or a first degree relative with NF2 and a unilateral vestibular schwannoma, or any two of the following: meningioma, schwannoma, glioma, neurofibroma, or juvenile posterior subcapsular lenticular opacity.2 These strict criteria have since been slightly relaxed to incorporate more patients who do not quite fulfil the diagnostic criteria but are thought nevertheless to have NF2.34

    We report here a patient who was found to have NF2, by the strict criteria, and who had severe intellectual disability. Further investigation revealed a de novo balanced reciprocal translocation. We have fine mapped the chromosome 22 breakpoint and its relation to NF2 and established the effect of this translocation in various tissues from the patient.

    METHODS

    A 26 year old woman presented at hospital with acute abdominal pain. She was mentally handicapped since birth but was otherwise fit and well, living in a residential home with an excellent quality of life. Her speech and language were limited but she was able to communicate with those she knew well. At operation a large abdominal schwannoma was identified. She was subsequently found to have bilateral vestibular schwannomas on MRI and thus satisfied the diagnostic criteria for NF2.

    GTL banding at the 550-band level was done using standard techniques. The X-inactivation status of the patient was determined by a polymerase chain reaction (PCR) based X-inactivation assay at the AR locus.56 DNA isolation from genomic clones and fluorescence in situ hybridisation (FISH) methods were used, as described by Cox et al.7 Clones from the RPCI-1, 5, 11, …

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