Neurofibromatosis with fully expressed Noonan syndrome

Abuelo, Dianne; Meryash, David L.

doi:10.1002/ajmg.1320290426

Cited by 36 publications

(18 citation statements)

References 9 publications

(3 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Multigenerational families with discordance of the Noonan phenotype in individuals with NF1 are known (29, 30). In another report, a father and son with NF1 were described in which the son had classic Noonan syndrome and the father had variable features of the Noonan phenotype (31). Our family also exhibited phenotypic variability, but all affected family members had some features of Noonan syndrome.…”

Section: Discussionmentioning

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

View full text Add to dashboard Cite

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.

show abstract

Section: Discussionmentioning

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

View full text Add to dashboard Cite

show abstract

“…Indeed, most cases appear as sporadic instances and are not conducive to the familial inquiry necessary for eliciting modifying genes. It is difficult to draw definite conclusions from different families described as segregating NF-NS [Quattrin et al, 1987;Meinecke, 1987;Abuelo and Meryash, 1988;Stern et al, 1992]. However, it seems 1) that overlap with NS is always more outstanding in children, and 2) that these families, regardless of patients' ages, do exhibit clustering of malformative symptoms or facial anomalies.…”

Section: Nonsense R816x Is Recurrent and Probablymentioning

confidence: 91%

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

Bahuau¹,

Houdayer²,

Assouline³

et al. 1998

Am. J. Med. Genet.

View full text Add to dashboard Cite

Neurofibromatosis type 1 (NF1), a genetic disorder with neuroectodermal involvement, demonstrates phenotypic overlap in some patients with Noonan syndrome (NS), ultimately resulting in the so-called neurofibromatosis-Noonan syndrome (NF-NS). A strong association of the two phenotypic traits was recently illustrated by a four-generation family, although NF1 and NS were eventually demonstrated to segregate independently on the basis of polymorphic DNA markers [Bahuau et al., 1996: Am J Med Genet 66:347-355]. Identification of the causal NF1 mutation seemed a prerequisite to further dissecting this singular familial association. Using the protein truncation assay, a nonsense mutation (C2446T-->R816X) of the neurofibromin gene was evidenced. This mutation occurred on a CpG dinucleotide within exon 16 and 5' to the GAP domain-specifying region of the gene. R816X creates a recognition site for endonuclease HphI, absent in 2 individuals with NS only. Screening 184 unrelated NF1 patients, three novel occurrences of the mutation were found in individuals diagnosed with classical NF1. Based on the assumption of genotype-phenotype correlation in these individuals, clinical and molecular analyses of this four-generation family demonstrated that the NF-NS phenotype was additive, being the result of both classical NF1 and NS. This particular observation also suggests the presence of an NS locus on 17q, which might be of interest for further linkage studies.

show abstract

“…There have been multiple reports of an association between neurofibromatosis-1 and NS-like anomalies [Abuelo and Meryash, 1988;Allanson et al, 1985;Mendez, 1985;Opitz and Weaver, 1985;Shuper et al, 19871. In both disorders patients may have short stature, short broad neck, and hypertelorism.…”

Section: Introductionmentioning

confidence: 97%

Ullrich-Turner syndrome and neurofibromatosis-1

et al. 1996

View full text Add to dashboard Cite

There is a well-known association between neurofibromatosis-l(NF'1) and Noonan syndrome-like manifestations, including short stature, short broad neck, and hypertelorism. These anomalies are thought to be due to variable expression of the NF1 gene. W e report on two girls with NF'1 who were found to have the Ullrich-Turner syndrome. Case 1, a 12-year-old white girl, was followed in a Neurofibromatosis Clinic because of multiple cafh-au-lait spots and a family history of "1 in her mother and sister. On examination, she had short stature, hypertelorism, and short neck with low posterior hairline. Karyotype was 86% 46JCYl14% 453. Case 2, the first child of a woman with NFl, presented at birth with lymphedema of hands and feet and a short broad neck. Karyotype was 453. At age 23 months she was short, had epicanthic folds, hypertelorism, narrow palate, right simian crease, 19 cafe-au-lait spots, and axillary freckling. W e conclude that chromosome studies should be performed in girls with NF1 who have short stature and Noonan-or Ullrich-'hrnerlike findings. Dilemmas raised by the dual diagnoses of NF1 and Ullrich-Turner syndrome include potential risks of growth hormone therapy and estrogen replacement therapy. 0 1996 Wiley-Liss, Inc.

show abstract

Neurofibromatosis with fully expressed Noonan syndrome

Cited by 36 publications

References 9 publications

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

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

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome

Ullrich-Turner syndrome and neurofibromatosis-1

Contact Info

Product

Resources

About