Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus

Ahlbom, Bodil Edman; Dahl, Niklas; Zetterqvist, Per; Annerén, Göran

doi:10.1111/j.1399-0004.1995.tb04061.x

Cited by 33 publications

(5 citation statements)

References 20 publications

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“…This five‐generation family (Fig. 1a) with an initial clinical diagnosis of NS was reported earlier (25), however this report presents additional family members. Twelve family members were clinically examined/re‐examined (II:2, II:3, II:4, II:6, II:10, II:11, III:2, III:4, IV:2, IV:3, IV:4 and V:1).…”

Section: Methodsmentioning

confidence: 49%

“…Here, we describe the clinical and molecular re‐examination of an extended five‐generation family, previously reported in 1995 (Fig. 1) (25). The initial clinical diagnosis, NS, of the family was based on the presence of short stature, NS facial features, congenital heart defect and short and webbed neck in several family members (Table 1) (Fig.…”

Section: Discussionmentioning

confidence: 91%

“…This large five‐generation family (Fig. 1), part of it previously reported as having NS with CAL spots (25), was re‐investigated to identify the genetic cause. On the basis of the clinical evaluation where all the family members, except for the youngest individual V:1, fulfilled the NIH‐consensus criteria for NF1 (Table 1) (3), the clinical diagnosis was reconsidered as NFNS.…”

Section: Resultsmentioning

confidence: 99%

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

et al. 2009

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Noonan syndrome (NS) and neurofibromatosis type I (NF1) belong to a group of clinically related disorders that share a common pathogenesis, dysregulation of the RAS-MAPK pathway. NS is characterized by short stature, heart defect, pectus deformity and facial dysmorphism, whereas skin manifestations, skeletal defects, Lisch nodules and neurofibromas are characteristic of NF1. Both disorders display considerable clinical variability. Features of NS have been observed in individuals with NF1 -a condition known as neurofibromatosis-Noonan syndrome (NFNS). The major gene causing NFNS is NF1. Rarely, a mutation in PTPN11 in addition to an NF1 mutation is present. We present the clinical and molecular characterization of a family displaying features of both NS and NF1, with complete absence of neurofibromas. To investigate the etiology of the phenotype, mutational analysis of NF1 was conducted, revealing a novel missense mutation in exon 24, p.L1390F, affecting the GAP-domain. Additional RAS-MAPK pathway genes were examined, but no additional mutations were identified. We confirm that NF1 mutations are involved in the etiology of NFNS. Furthermore, based on our results and previous studies we suggest that evaluation of the GAP-domain of NF1 should be prioritized in NFNS.

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Section: Methodsmentioning

confidence: 49%

Section: Discussionmentioning

confidence: 91%

Section: Resultsmentioning

confidence: 99%

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Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

et al. 2009

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“…Mutations of the PTPN11 gene in Noonan syndrome tend to cluster in exons 3 and 8 (10) suggesting possible site-specific genotype-phenotype correlations for LEOPARD syndrome and Noonan syndrome. Linkage analysis in a family with Noonan syndrome and cafe´-au-lait macules and in a family with LEOPARD syndrome showed no linkage to the NF1 locus (23). Subsequently, linkage to PTPN11 was also excluded (21).…”

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confidence: 99%

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

Stevenson¹,

Viskochil²,

Rope³

et al. 2006

Clinical Genetics

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NF-Noonan syndrome (NFNS) has been described as a unique phenotype, combining manifestations of neurofibromatosis type 1 (NF1) and Noonan syndromes, which are separate syndromes. Potential etiologies of NF-Noonan syndrome 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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“…Einea ndere Sonderform derE rkrankung, dasN eurofibromatose/ Noonan-Syndrom,wurde aufeine Mutation im NF1-Gen (17q) zurückgeführt (141). Eine derartige Mutation,s owohl in NF1, als auch NF2 (22q), konnte allerdingsb ei Patientenmit Noonan-Syndrom (mit Café-aulait-Flecken)n icht bestätigt werden ( 6,52,123).…”

Section: Noonan-syndromunclassified

Ätiologie und Epidemiologie des primären Lymphödems

Kröll¹,

Neuhüttler²,

Brenner³

2006

Phlebologie

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ZusammenfassungEine beträchtliche Zahl Patientinnen und Patienten mit einem Lymphödem leiden an einer genetisch bedingten Form, dem primären Lymphödem. Fundierte epidemiologische Daten sind allerdings spärlich. Die vorliegende Übersichtsarbeit fasst den derzeitigen Stand des Wissens über die vielfältigen genetischen Ursachen und Grundlagen zusammen. Die Zusammenstellung umfasst folgende Erkrankungen und Syndrome: Klippel-Trenaunay, Nonne-Milroy, Waver und Sotos, Lissenzephalie vom Norman-Roberts-Typ, Buschke-Ollendorff, Noonan, Aagenaes, Meige, Lymphödem-Distichiasis, Yellow-Nail, Lymphödem und Ptosis, Hypotrichose-Lymphödem-Teleangiektasie, Kanzaki-Krankheit, Lymphödem-Mikrozephalie (-Chorioretinopathie), unilaterale Gigantomastie, Hennekam, rezessives kongenitales Lymphödem, Aarskog-Scott, OLEDAID, Lymphödem-Hypoparathyreoidismus, Campomelie vom Cumming-Typ sowie Swyer.

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Noonan syndrome with café‐au‐lait spots and multiple lentigines syndrome are not linked to the neurofibromatosis type 1 locus

Cited by 33 publications

References 20 publications

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

Noonan syndrome and neurofibromatosis type I in a family with a novel mutation in NF1

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

Ätiologie und Epidemiologie des primären Lymphödems

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