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Case Reports
. 2006 Mar;69(3):246-53.
doi: 10.1111/j.1399-0004.2006.00576.x.

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

D A Stevenson  1 , D H Viskochil, A F Rope, J C Carey
Affiliations
Case Reports

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

D A Stevenson et al. Clin Genet. 2006 Mar.

Abstract

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.

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Figures

Figure 1
Figure 1
Pedigree and chromosome 12q haplotypes of the affected family: The NF1 clinical features segregate with the 3-base pair deletion of the NF1 gene (2971delAAT). Haplotype analysis does not show segregation of the PTPN11 locus with the Noonan clinical features using polymorphic short tandem repeat microsatellite markers specific for chromosome 12q. D12S829 and D12S800 are located approximately 18 Mb and 8 Mb proximal to the PTPN11 locus respectively. D12S811 is located approximately 1 Mb distal to the PTPN11 locus. A cross-over event likely occurred between markers D12S829 and D12S800 in II-3. CH 12q = chromosome 12q; c = centromere; t = telomere; NF1 = neurofibromatosis type 1.
Figure 2
Figure 2
Photograph of index case (II-5) at 8 months of age.
Figure 3
Figure 3
Photograph of index case (II-5) at 2.5 years of age.
Figure 4
Figure 4
Photograph of 13-year old boy (II-3).
Figure 5
Figure 5
Photograph of chest of 10-year old boy (II-4) showing surgically corrected pectus excavatum and café-au-lait macules.
See this image and copyright information in PMC

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