Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype

被引:28
作者
Stevenson, DA [1 ]
Viskochil, DH [1 ]
Rope, AF [1 ]
Carey, JC [1 ]
机构
[1] Univ Utah, Dept Pediat, Div Med Genet, Salt Lake City, UT 84132 USA
关键词
neurofibromatosis; Noonan syndrome; PTPN11; pulmonic stenosis;
D O I
10.1111/j.1399-0004.2006.00576.x
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Neurofibromatosis-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndrome, which are separate syndromes. Potential etiologies of NFNS include a discrete syndrome of distinct etiology, co-segregation of two mutated common genes, variable clinical expressivity of NF1, and/or allelic heterogeneity. We present an informative family with an unusual NF1 mutation with variable features of NF1 and Noonan syndrome. We hypothesize that an NF1 mutant allele can lead to diagnostic manifestations of Noonan syndrome, supporting the hypothesis that NF1 allelic heterogeneity causes NFNS.
引用
收藏
页码:246 / 253
页数:8
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