Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus
1995; Wiley; Volume: 48; Issue: 2 Linguagem: Inglês
10.1111/j.1399-0004.1995.tb04061.x
ISSN1399-0004
AutoresBodil Edman Ahlbom, Niklas Dahl, PER ZETTERQVIST, Göran Annerén,
Tópico(s)Tuberous Sclerosis Complex Research
ResumoNoonan syndrome, multiple lentigines syndrome (LEOPARD syndrome), Watson syndrome and neurofibromatosis type 1 share certain clinical manifestations. We present a linkage analysis using microsatellite markers located in the neurofibromatosis type 1 region at 17q11 in a family with Noonan syndrome and café-au-lait spots and in another family with multiple lentigines syndrome. No linkage of the disease to the neurofibromatosis type 1 locus was found in the families investigated. On the basis of our results, we suggest that neither familial multiple lentigines syndrome nor Noonan syndrome is caused by a defect in the neurofibromatosis type 1 gene.
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