Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype.
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.
Stevenson
D A
DA
Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT 84132, USA.
Viskochil
D H
DH
Rope
A F
AF
Carey
J C
JC
D000293:Adolescent; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005260:Female; D016514:Genes, Neurofibromatosis 1; D006801:Humans; D007223:Infant; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics; D008297:Male; D009154:Mutation; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000235:genetics*; D009634:Noonan Syndrome / Q000150:complications* / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases / Q000235:genetics; D017384:Sequence Deletion
D047908:Intracellular Signaling Peptides and Proteins; C516724:PTPN11 protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054592:Protein Tyrosine Phosphatase, Non-Receptor Type 11; D017027:Protein Tyrosine Phosphatases