EXCLUSION OF ALLELISM OF NOONAN-SYNDROME AND NEUROFIBROMATOSIS-TYPE-1IN A LARGE FAMILY WITH NOONAN-SYNDROME NEUROFIBROMATOSIS ASSOCIATION

Authors
BAHUAU M FLINTOFF W ASSOULINE B LYONNET S LEMERRER M PRIEUR M GUILLOUDBATAILLE M FEINGOLD N MUNNICH A VIDAUD M VIDAUD D
Citation
M. Bahuau et al., EXCLUSION OF ALLELISM OF NOONAN-SYNDROME AND NEUROFIBROMATOSIS-TYPE-1IN A LARGE FAMILY WITH NOONAN-SYNDROME NEUROFIBROMATOSIS ASSOCIATION, American journal of medical genetics, 66(3), 1996, pp. 347-355
Citations number
39
Categorie Soggetti
Genetics & Heredity
Journal title
American journal of medical genetics → ACNP
ISSN journal
01487299
Volume
66
Issue
3
Year of publication
1996
Pages
347 - 355
Database
ISI
SICI code
0148-7299(1996)66:3<347:EOAONA>2.0.ZU;2-K
Abstract
A large four-generation family with Noonan syndrome (NS) and neurofibr omatosis-type 1 (NF1) was studied for clinical association between the two diseases and for linkage analysis with polymorphic DNA markers of the NF1 region in 17q11.2. Nonrandom segregation between NS and NF1 p henotypes was observed. Neurofibromatosis was tightly linked to NF1 ma rkers, whereas Noonan syndrome was found not be allelic to NF1. These results suggest that two mutations at two independent but closely link ed loci are the cause of neurofibromatosis-Noonan syndrome (NF-NS) ass ociation in this family. (C) 1996 Wiley-Liss, Inc.