Familial occurrence of neuroblastoma, von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis and jaw-winking syndrome.
A family is reported with ganglioneuromas in the mother and neuroblastomas in her two daughters co-existing with cases of von Recklinghausen's neurofibromatosis, Hirschsprung's agangliosis, and the jaw-winking syndrome in other family members. There were no detectable constitutional chromosomal defects in the family even when high resolution techniques were applied. Similarly, DNA-hybridization analysis did not reveal gross molecular rearrangements in the vicinity of the proto-oncogenes N-myc-, c-myc, neu, and N-ras. However, the aggregation of several rare, autosomal dominant diseases affecting tissue derived from the neural crest not only suggest a link between te pathogenesis of these disease, but also makes it highly likely that a single mutation segregating within the family is responsible for this association.
Clausen
N
N
Department of Paediatrics, University Hospital of Copenhagen, Denmark.
Andersson
P
P
Tommerup
N
N
D000328:Adult; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D003718:Denmark; D005260:Female; D006627:Hirschsprung Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008334:Mandible / Q000503:physiopathology*; D008875:Middle Aged; D009447:Neuroblastoma / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome
D004247:DNA