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Clinical and molecular correlates of somatic mosaicism in neurofibromatosis 2
  1. M E BASER*,
  2. A J WALLACE,
  3. T STRACHAN,
  4. D G R EVANS
  1. * 11746 Bellagio Road, No 308, Los Angeles, CA 90049, USA
  2. Department of Medical Genetics, St Mary's Hospital, Manchester, UK
  3. University Department of Human Genetics, University of Newcastle upon Tyne, UK
  1. Dr Baser, baser{at}earthlink.net

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Editor—Neurofibromatosis 2 (NF2) is an autosomal dominant disorder that is characterised by benign nervous system tumours (such as vestibular schwannomas (VSs), intracranial meningiomas, and spinal tumours) and other abnormalities.1Somatic mosaicism (the presence of a mutation, deletion, or chromosomal abnormality in a subpopulation of somatic cells) is thought to be relatively common in NF2, affecting perhaps 15% of sporadic cases.2 3

There can be considerable clinical variability in mosaics because somatic mutation can occur at different stages of the postzygotic cell lineage. Evans et al 2 reported the degree of mosaicism for five NF2 patients. Two patients with an estimated <10% of peripheral lymphocytes withNF2 mutations had ages of onset of symptoms of 41-48 years, while three patients with an estimated 21-44% of affected cells had ages of onset of symptoms of 21-28 years. This is consistent with a relationship between degree of mosaicism and disease severity, although there are too few patients to draw firm conclusions.

Few NF2 somatic mosaics have been reported, and clinical and molecular differences between mosaics and sporadic non-mosaic NF2 patients have not been quantified. To examine this …

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