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At least 1,315 records · Page 73Linked to original sources
PubMed1995

Expression of two new protein isoforms of the neurofibromatosis type 1 gene product, neurofibromin, in muscle tissues.

The neurofibromatosis type 1 (NF1) gene encodes a tumor suppressor protein, termed neurofibromin, which is expressed predominantly in neurons, Schwann cells, oligodendrocytes, and leukocytes. There are at least three isoforms of neurofibromin produced by the alternative use of exons 23a and 48a. Previously we described the identification of an NF1 mRNA isoform containing an additional 54 nucleotides from exon 48a (type 3 NF1) in human skeletal, cardiac and smooth muscle tissues by reverse-transcribed (RT)-PCR. To extend our initial observations, we have produced high titer chicken IgY antibodies which specifically recognize this muscle-specific neurofibromin isoform. An NF1 cDNA was generated containing human exon 48a sequences and expressed as a fusion protein in bacteria. The muscle-specific neurofibromin antibodies detected this exon 48a fusion protein by Western immunoblotting. Immunoprecipitation using these type 3 neurofibromin antibodies also specifically detected a 250 kDa protein in human and rat muscle tissues. Type 3 neurofibromin was found in rat heart and muscle, but not in liver brain, kidney or spleen with levels of expression declining after postnatal day 7. Expression of total NF1 RNA during rat embryonic development was detected at high levels in E15 heart, tongue, and limb bud. In addition, using type 2 neurofibromin-specific antibodies, the existence of a fourth isoform of neurofibromin (type 4 neurofibromin) containing both exon 23a and 48a sequences was demonstrated in rat heart muscle tissues. The identification of two muscle-specific isoforms of neurofibromin expands our definition of this important tumor suppressor protein and suggests additional roles for neurofibromin in muscle development and differentiation.

Amino Acid Sequence↗
PubMed1982

Familial T-cell lymphoblastic lymphoma: association with Von Recklinghausen neurofibromatosis and Gardner syndrome.

A family is described in which three of seven siblings developed a T-cell lymphoblastic lymphoma. Tumor cells formed rosettes with sheep erythrocytes, lacked surface Ig, and expressed human T- but not B-lymphocyte antigens. They lacked the enzyme terminal transferase suggesting a lymph node rather than thymic T-cell origin. Autopsy findings supported this conclusion. All three sibs, like their father, had numerous cafe'-au'lait spots indicative of Von Recklinghausen neurofibromatosis. One child had a subcutaneous fibroma, and another had multiple colonic polyps and exostoses characteristic of Gardner syndrome. Both are autosomal dominant conditions known to predispose to malignancies. The genetic factors responsible for these conditions may also predispose to the development of "post-thymic" T-cell lymphoblastic lymphoma.

Child↗
PubMed1981

Neurofibromatosis in monozygotic twins: a case report of spontaneous mutation.

We report female monozygotic twins with neurofibromatosis. The family history is unremarkable, and careful examination of other family members did not show evidence of the condition. It is concluded that the occurrence in this family is due to a spontaneous mutation arising in one of the parental gametes. This article examines the similarity and difference in manifestations of the disorder in this pair of monozygotic twins.

Cranial Nerve Neoplasms↗
PubMed1983

Brief clinical report: aqueductal stenosis leading to hydrocephalus--an unusual manifestation of neurofibromatosis.

Two brothers and an unrelated male with neurofibromatosis (NF) developed hydrocephalus in childhood. Aqueductal stenosis (AS) was demonstrated by ventriculography and required shunt operation. Genetic counselors had to decide whether to invoke an X-linked gene for AS or whether AS could be caused by the NF mutation. Reports of 13 patients of both sexes with AS and NF suggest that AS with resulting hydrocephalus may be a rare manifestation of the NF gene. AS should be looked for in young NF patients with signs of hydrocephalus or with neurologic abnormalities.

Adolescent↗
PubMed1984

The pathophysiology of neurofibromatosis: IX. Paternal age as a factor in the origin of new mutations.

Von Recklinghausen neurofibromatosis is characterized by a relatively large proportion of apparently nonfamilial cases, presumed spontaneous mutations. This paper analyzes the distribution of paternal and maternal ages for 187 patients with von Recklinghausen disease representing the first definite case in their respective families. Mean paternal age was 32.8 years and mean maternal age was 27.4 years, both being significantly greater than for control populations (P equal to or less than .001). The advanced paternal age was not accounted for by the increase in maternal age. The methodology of controlling the general population paternal ages for each patient's birth year is described.

Adult↗
PubMed1985

A distinctive facial appearance in neurofibromatosis von Recklinghausen.

Three children with neurofibromatosis from two unrelated families have unusual facial appearance due to telecanthus, antimongoloid slant of the palpebral fissures, broad nose, and tapering chin. The two boys have large hands and feet, and one is very tall. There were some facial and dermatoglyphic similarities to individuals with the Noonan syndrome, but the manifestations in the children reported here are sufficiently different to suggest the presence of a different type of neurocristopathy in these individuals.

Adolescent↗
PubMed1985

Familial glioblastoma multiforme without neurofibromatosis.

Glioblastoma multiforme is a rapidly growing anaplastic primary tumor of the central nervous system. It is frequently associated with neurofibromatosis or other hamartomatous syndromes, and in such kindreds may be found in several generations. We describe a highly inbred family in which glioblastoma multiforme presents in males only as an isolated central nervous system neoplasm on the right side, without evidence of other underlying genetic disease. It is speculated that in this family the tumor develops as the consequence of an autosomal recessive or an X-linked recessive mutation. In addition, the gene for cystic fibrosis segregates in this family and an undefined autosomal recessive malformation syndrome was detected.

Cystic Fibrosis↗
PubMed1985

A genetic linkage study in 15 families of individuals with von Recklinghausen neurofibromatosis.

A linkage analysis between the gene for von Recklinghausen neurofibromatosis (NF) and 21 genetic markers was carried out using the computer program LIPED. The study group included 15 families composed of 84 individuals, 51 of whom were affected with NF; there were six three-generation families and nine two-generation families. Lod scores excluded tight linkage (Z less than -2.0) between eight genetic markers and NF and were inconclusive for nine markers. Four markers were not informative. The analysis failed to confirm either the previously suggested linkage between NF and the plasma vitamin D-binding protein Gc or the possibility of linkage of NF to the secretor locus suggested by reports of two families segregating for NF and myotonic dystrophy.

Adolescent↗
PubMed1986

Dermatoglyphics and creases in patients with neurofibromatosis von Recklinghausen.

Fingerprint and palmar dermatoglyphics and creases were investigated in 60 patients (20 males and 40 females) with generalized neurofibromatosis. Like previous investigators, we found a significantly increased frequency of digital central pocket patterns. Furthermore, affected males and females had an increased frequency of monocentric whorls (P = 0.0037), higher quantitative values on digit II of both hands (P = 0.04), more often a reduction of main line C (P less than 0.05) with decreased frequencies of patterns in the 3rd and 4th interdigital area of the left hand (P less than 0.05), and a lower ab ridge count (males P less than 0.005; females P less than 0.001) than control individuals. On the right hand of males the frequency of high endings (5' or 5'') of line A was decreased (P less than 0.05). A significantly increased frequency of Sfl (Sydney line) was found in female patients (P less than 0.001). Male and female patients often showed a high number of secondary creases (P less than 0.001).

Dermatoglyphics↗
PubMed1986

Pulmonary hypertension and interstitial fibrosis in von Recklinghausen neurofibromatosis.

Neurofibromatosis von Recklinghausen (NFvR) has been reported to be associated with diffuse interstitial pulmonary fibrosis. We describe a patient with NFvR presenting in middle age with dyspnea and cyanosis. Chest radiographs showed right ventricular enlargement, dilated proximal pulmonary arteries, and bilaterally increased interstitial markings. Cardiac catheterization showed moderately severe pulmonary hypertension and no evidence of congenital heart defect. The interstitial fibrosis associated with NFvR can result in symptomatic pulmonary hypertension.

Electrocardiography↗
PubMed1989

"Vascular neurofibromatosis" and infantile gangrene.

An 11-year-old boy with slowly progressive gangrene caused by vasculopathy similar to that of neurofibromatosis (NF) type 1 (NF I; von Recklinghausen disease [NFvR]) and a newborn girl with idiopathic gangrene with vascular changes resembling those of NFvR prompted the analysis of all 105 propositi with NF (NF I and NF II) evaluated between January 2, 1982, and December 31, 1986, at the genetics clinic of University of South Florida. They were analyzed for renal hypertension, symptomatic ischemia, and known vascular changes. One additional 27-month-old boy with NFvR was found to have extensive vascular changes with renal hypertension. The vasculopathy indicated asymmetric over/undergrowth of cellular and extracellular components of the vascular wall and implied dysregulation of the paracrine growth mechanism. Immunocytochemical studies of affected vessels were done only in the 11-year-old boy and showed positive neuron-specific enolase, S-100 protein, and glial fibrillary acidic protein (GFAP) reactions indicative of Schwann cell involvement. The vascular changes in children with NFvR are mostly asymptomatic; however hypertension secondary to renal artery stenosis and/or Moya-moya disease have been reported infrequently. Our patients with vasculopathies provoked thoughts in regard to the so-called vascular NF, its place in current NF nomenclature and classification, relationship to fibromuscular dysplasia (FMD), and possible role in infantile gangrene.

Angiography↗
PubMed1989

Dermatoglyphics in von Recklinghausen neurofibromatosis.

We studied dermatoglyphic traits in 27 patients (12 males and 15 females) with neurofibromatosis type I (NF-1) to verify which characteristics may be considered typical of this disorder. The frequency of digital central pockets in the patients was significantly greater than in control individuals (P less than .005), but when we evaluated the sexes separately, the difference was significant only among females (P less than .002). The distribution of central pockets on the various fingers was significantly different in affected females, compared with normal controls, but only on fingers II (P less than .05), IV (P .002), and V (P less than .05). The quantitative finger tip pattern values and the total finger ridge count (TFRC) were always higher in the patients, as well as was the a-b ridge count. The latter was significantly increased only on the right hand in females (P less than .01). Among the patients, the atd angle values were increased on both hands of females and on the right hand in males, whereas both the ulnar index A'-d and the a-t' ridge counts were diminished. The frequency of high endings (5' or 5") of line A was increased in NF-1 patients on both hands. Like in previous investigations, our patients showed an increased number of secondary creases, limited to II degree according to Vormittag et al. [1986] (P less than .048). Our results only partially confirmed prior data. Therefore, we think that there is no typical dermatoglyphic pattern in NF-1 and that this parameter is not a diagnostic indicator in this disorder.

Adolescent↗
PubMed1991

Molecular analysis of a patient with neurofibromatosis 1 and achondroplasia.

The gene for von Recklinghausen neurofibromatosis (NF1) is on proximal 17q; the location of the gene for achondroplasia (ACH) is unknown. We have begun a molecular analysis of a patient with mental retardation, NF1 and ACH, a clinical presentation suggestive of a contiguous gene syndrome. In addition, this individual has a 47,XYY chromosome constitution. To define a possible chromosome 17 deletion, we investigated the copy number of DNA sequences linked to NF1 with conventional and pulsed-field gel electrophoresis (PFGE). We found no evidence for a deletion on chromosome 17. These results make it unlikely that this patient harbors a single deletion in the NF1 region causing both NF1 and ACH and suggest different mechanisms for the de novo occurrence of 2 autosomal dominant disorders in this individual.

Achondroplasia↗
PubMed1991

Relationship between head circumference and height in normal adults and in the nevoid basal cell carcinoma syndrome and neurofibromatosis type I.

Occipitofrontal circumference (OFC) was strongly correlated with height in 72 normal Caucasian men (r = 0.28, P = 0.018) and 78 women (r = 0.53, P less than 0.0001). OFC:height ratios were approximately normally distributed in each sex with a mean of 0.326 (standard deviation [sd] = 0.0139) in males and 0.335 (sd = 0.0177) in females. Relative macrocephaly (an OFC greater than the 95th centile for height) was seen in seven of nine probands with the nevoid basal cell carcinoma syndrome (NBCC), eight of 32 non-probands with NBCC, three of four neurofibromatosis type 1 (NF1) probands, and six of nine non-probands with NF1. Thirty-one percent of the non-proband NBCC cases had OFC less than the 50th centile for height, while none of the NF1 cases had this finding. Head size appears to be related to proband status in NBCC, while the evidence suggests that NF1 is a true macrocephaly syndrome. Objective detection of relative abnormalities in head size may aid in syndrome delineation and diagnosis.

Adult↗
PubMed1992

Neurofibromatosis 1 and osseous fibrous dysplasia in a family.

We report on the cosegregation of neurofibromatosis 1 (NF 1) and osseous fibrous dysplasia in a family. The father and 3 children by 2 women are affected. A fourth child had neither NF 1 nor osseous fibrous dysplasia. All 4 affected individuals had NF 1, i.e., café-au-lait spots in 4, neurofibromata in 4, Lisch nodules in 3, macrocrania in 3, scoliosis in 2, and curvature of the long bones in 2. Each demonstrated various fibroosseous lesions of the skeleton including non-ossifying fibromas in 3 and both non-ossifying fibromas and fibrous dysplasia in one. This pattern suggests that the fibrous bony lesions are a component of NF 1 in this family. Alternatively, a mutant gene resulting in the fibrous changes in bone could be linked to the gene for NF 1. Another possibility is the coincidence of the 2 non-linked traits segregating in the same family.

Adolescent↗
PubMed1993

Characterization of a de novo 48,XX,+r(X),+r(17) by in situ hybridization in a patient with neurofibromatosis (NF1).

We describe a patient with familial neurofibromatosis (NF1), short stature, developmental delay, and a de novo chromosome abnormality. In situ hybridization was done using chromosome specific centromere probes to characterize the karyotype as 46,XX/47, XX,+r(X) (p11q11)/47,XX,+r(17) (p11q11)/48, XX,+r(X) (p11q11),+r(17) (p11q11). The NF1 mutation, as well as each supernumerary ring chromosome, may have played a role in perturbing the normal developmental process of this patient.

Adolescent↗
PubMed1994

Neurofibromatosis 2 (NF2): clinical characteristics of 63 affected individuals and clinical evidence for heterogeneity.

To determine the spectrum of manifestations in neurofibromatosis 2 (NF2) and to assess possible heterogeneity, we evaluated 63 affected individuals from 32 families. Work-up included skin and neurologic examinations, audiometry, a complete ophthalmology examination with slit-lamp biomicroscopy of the lens and fundus, and gadolinium-enhanced MRI of the brain and, in some, of the spine. Mean age-at-onset in 58 individuals was 20.3 years; initial symptoms resulted from vestibular schwannomas (44.4%), other CNS tumors (22.2%), skin tumors (12.7%), and ocular manifestations including cataracts and retinal hamartomas (12.7%). Five asymptomatic individuals were diagnosed through screening. Vestibular schwannomas were documented in 62 individuals (98.4%); other findings included cataracts (81.0%), skin tumors (67.7%), spinal tumors (67.4%), and meningiomas (49.2%). Usually, clinical manifestations and course were similar within families but differed among families. To assess possible heterogeneity, we assigned affected individuals to three proposed subtypes (representing mild, intermediate, and severe NF2) based on age-at-onset, presence or absence of CNS tumors other than vestibular schwannomas, and presence or absence of retinal hamartomas. Comparisons among the three subtypes for many clinical parameters demonstrated that patients in the mild subtype differed from those in the other two subtypes for most parameters, but that none of the parameters distinguished patients in the intermediate subtype from those in the severe subtype. Thus, there are likely two rather than three subtypes of NF2. Classification of patients to subtype may aid in counseling about long-term prognosis and in formulating individualized guidelines for medical surveillance.

Adolescent↗
PubMed2003

Personality profiles of children and adolescents with neurofibromatosis type 1.

The personality profile of 44 youngsters (24 males, 20 females; mean age 11 years, 3 months) with neurofibromatosis type 1 (NF1) was compared with a group of 220 non-NF1 control youngsters (matched on age and gender). Personality characteristics of each youngster were rated by both parents, using the California Child Q-set (CCQ); [Block and Block, 1980]. The scores on eight personality dimensions were compared, i.e., Extraversion, Agreeableness, Conscientiousness, Emotional Stability, Openness, Motor Activity, Irritability, and Dependency. Moreover, personality of NF1 youngsters was related to IQ level, severity of medical problems, the presence or absence of visible cosmetic disfiguring, and de novo versus familial origin of NF1. The personality profile of NF1 youngsters was markedly different from the non-NF1 youngsters. Compared to the 220 control children, they were equally agreeable, but less conscientious, less emotionally stable, less open for new experience, with less motor activity, and more extravert, more dependent, and more irritable. Personality characteristics were similar for children with maternally or paternally inherited NF1, or for children with a new mutation. There was no association with gender, the severity of medical and cosmetic problems, and IQ.

Adolescent↗