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Independent NF1 mutations in two large families with spinal neurofibromatosis
  1. L Messiaen1,
  2. V Riccardi2,
  3. J Peltonen3,4,5,
  4. O Maertens,
  5. T Callens1,
  6. S L Karvonen3,4,
  7. E-L Leisti6,
  8. J Koivunen3,
  9. I Vandenbroucke1,
  10. K Stephens7,
  11. M Pöyhönen8
  1. 1Centre for Medical Genetics, Ghent University Hospital, Belgium
  2. 2The Neurofibromatosis Institute, La Crescenta, CA, USA
  3. 3Department of Anatomy and Cell Biology, University of Oulu, Finland
  4. 4Department of Dermatology, University of Oulu, Finland
  5. 5Department of Medical Biochemistry, University of Turku, Finland
  6. 6Department of Radiology, University Hospital of Oulu, Finland
  7. 7Departments of Medicine & Laboratory Medicine, University of Washington, Seattle, WA, USA
  8. 8Department of Medical Genetics, Väestöliitto, Family Federation of Finland, Helsinki, Finland
  1. Correspondence to:
 Dr L Messiaen, Centre for Medical Genetics, University Hospital Ghent-0K5, De Pintelaan 185, 9000 Ghent, Belgium;
 Ludwine.Messiaen{at}rug.ac.be

https://doi.org/10.1136/jmg.40.2.122

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    The neurofibromatoses are a group of neurocutaneous disorders that show extreme clinical heterogeneity and are characterised by growth abnormalities in tissues derived from the embryonic neural crest.1,2 Two main clinical forms exist, type 1 (NF1) and type 2 (NF2), as well as several alternate and related forms.2,3 NF1 and NF2 are the only clinically well defined disorders and both genes have been identified.4–8 The NIH diagnostic criteria for NF1, as defined by the conference statement,9 are met if two or more of the following are found: six or more CAL spots; two or more neurofibromas of any type or one plexiform neurofibroma; axillary or inguinal freckling; optic glioma; two or more Lisch nodules; a distinct osseous lesion; a first degree relative (parent, sib, or offspring) with NF1 according to the above criteria.

    Spinal nerve sheath tumours are described as symptomatic findings in only 5% of NF1 patients,10 although they can be observed by MRI in up to 36% of patients.11–13 The presence of a wide, symmetrical distribution of spinal neurofibromas, occurring in all adult affected members of the same family and segregating in an autosomal dominant fashion, is however extremely rare. This form, familial spinal NF (FSNF), has been considered an alternate form of NF since patients generally lack dermal neurofibromas and Lisch nodules, both typical hallmarks of NF1, and since symptomatic and generalised spinal neurofibromas are uncommon in classical NF1. FSNF has been reported in only four families.12,14,15 Three multigenerational families with spinal neurofibromas and CAL spots were shown to be linked to markers surrounding the NF1 locus.12,14,15 In the fourth family, presenting with spinal neurofibromas without CAL spots, linkage to the NF1 locus was excluded.14 Only in one FSNF family has …

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