New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome

Reynolds, James F.; Neri, Giovanni; Herrmann, J.; Blumberg, Bruce; Coldwell, James G.; Miles, Paul V.; Opitz, John M.; Carey, John C.

doi:10.1002/ajmg.1320250303

Cited by 210 publications

(200 citation statements)

References 8 publications

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“…16 Because of the overlapping clinical features there is an ongoing discussion whether CFC syndrome and NS are allelic, or whether CFC is a contiguous gene syndrome. 17,18 Although two patients with CFC were reported to have an interstitial deletion of 12q21-22, 19,20 no deletions could be found in a further seven CFC patients investigated by Zollino et al, 21 using the same probe employed by Rauen et al 19 Familial occurrence has been reported in two families.…”

Section: Noonan-ptpn11 L Musante Et Al 204mentioning

confidence: 99%

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

et al. 2003

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Noonan syndrome (NS) is a relatively common, but genetically heterogeneous autosomal dominant malformation syndrome. Characteristic features are proportionate short stature, dysmorphic face, and congenital heart defects. Only recently, a gene involved in NS could be identified. It encodes the nonreceptor protein tyrosine phosphatase SHP-2, which is an important molecule in several intracellular signal transduction pathways that control diverse developmental processes, most importantly cardiac semilunar valvulogenesis. We have screened this gene for mutations in 96 familial and sporadic, wellcharacterised NS patients and identified 15 different missense mutations in a total of 32 patients (33%), including 23 index patients. Most changes clustered in one exon which encodes parts of the N-SH2 domain. Five of the mutations were recurrent. Interestingly, no mutations in the PTPN11 gene were detected in five additional patients with cardio-facio-cutaneous (CFC) syndrome, which shows clinical similarities to NS.

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Section: Noonan-ptpn11 L Musante Et Al 204mentioning

confidence: 99%

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

et al. 2003

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“…In this family some individuals present with NS and features suggestive of CFC 8 and others with NS features only. 3,9 Subjects, material and methods…”

Section: Introductionmentioning

confidence: 78%

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

et al. 2003

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Noonan syndrome (NS, MIM 163950) is an autosomal dominant condition characterised by facial dysmorphy, congenital cardiac defects and short stature. Recently missense mutations in PTPN11, the gene encoding the nonreceptor protein tyrosine phosphatase SHP-2 on 12q24, were identified in 50% of analysed Noonan cases. A large four-generation Belgian family with NS and some features suggestive of cardio-facio-cutaneous syndrome (CFC) was previously used to fine map the Noonan syndrome candidate region to a 5 cM region in 12q24. We now report the identification of a mutation (Gln79Arg) in the PTPN11 gene in this large family. In D. melanogaster and C. elegans the PTPN11 gene has been implicated in oogenesis. In this family two affected females had dizygous twins. This suggests that PTPN11 might also be involved in oogenesis and twinning in humans.

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“…Patients with CS have increased incidence of rhabdomyosarcoma, transitional cell carcinoma and neuroblastoma (Gripp, 2005); NS patients of rhabdomyosarcoma, juvenile myelomonocytic leukemia and acute lymphoblastic leukemia (Tartaglia and Gelb, 2005) and LS patients of acute myelogenous leukemia and neuroblastoma (Keren et al, 2004;Merks et al, 2005). CFC has not been definitively linked with malignancies although they do appear to have increased incidence of hemangiomatoses at birth (Reynolds et al, 1986). Given the previously described role of MKK signaling in vascular development, it is possible that the increased incidence of malignancies in these patients may be related to altered angioproliferative signaling induced by aberrant MEK 1 or MEK 2 signaling.…”

Section: Mkk Signaling In Developmental Syndromesmentioning

confidence: 99%

MKK signaling and vascularization

et al. 2007

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In 1998, George Vande Woude's lab discovered that anthrax lethal factor (LF), the principal virulence component of anthrax toxin, was a zinc-metalloprotease that cleaved and inactivated mitogen-activated protein kinase kinases (MKK). It was perhaps not surprising, given the known roles of MKK1 and 2 in cell proliferation, that LF was subsequently found to dramatically inhibit tumor growth in vivo. What was not anticipated, however, was that the tumors treated with LF would have a substantially reduced vascular content. This intriguing result was one of the first indications that MKK signaling plays an important role in promoting tumor vascularization in vivo. In the following short review, we will compare in vitro and in vivo evidence that supports the hypothesis that MKK signaling pathways are essential for vascularization.

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New multiple congenital anomalies/mental retardation syndrome with cardio‐facio‐cutaneous involvement—the CFC syndrome

Cited by 210 publications

References 8 publications

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

Spectrum of mutations in PTPN11 and genotype–phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome

PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning

MKK signaling and vascularization

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