在一个患有努南综合征-神经纤维瘤病关联的大家庭中排除努南综合征与1型神经纤维瘤病的等位基因关系。

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

作者信息

Bahuau M, Flintoff W, Assouline B, Lyonnet S, Le Merrer M, Prieur M, Guilloud-Bataille M, Feingold N, Munnich A, Vidaud M, Vidaud D

机构信息

Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U393, Paris, France.

出版信息

Am J Med Genet. 1996 Dec 18;66(3):347-55. doi: 10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L.

DOI:10.1002/(SICI)1096-8628(19961218)66:3<347::AID-AJMG20>3.0.CO;2-L

PMID:8985499

Abstract

A large four-generation family with Noonan syndrome (NS) and neurofibromatosis-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 phenotypes was observed. Neurofibromatosis was tightly linked to NF1 markers, whereas Noonan syndrome was found not be allelic to NF1. These results suggest that two mutations at two independent but closely linked loci are the cause of neurofibromatosis-Noonan syndrome (NF-NS) association in this family.

摘要

对一个患有努南综合征（NS）和1型神经纤维瘤病（NF1）的四代大家庭进行了研究，以探讨这两种疾病之间的临床关联，并对17q11.2区域NF1的多态性DNA标记进行连锁分析。观察到NS和NF1表型之间存在非随机分离。神经纤维瘤病与NF1标记紧密连锁，而努南综合征与NF1不呈等位基因关系。这些结果表明，两个独立但紧密连锁位点的突变是该家族中神经纤维瘤病-努南综合征（NF-NS）关联的原因。