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Neurofibromatosis 1

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https://www.readbyqxmd.com/read/29673180/accurate-classification-of-nf1-gene-variants-in-84-italian-patients-with-neurofibromatosis-type-1
#1
Alessandro Stella, Patrizia Lastella, Daria Carmela Loconte, Nenad Bukvic, Dora Varvara, Margherita Patruno, Rosanna Bagnulo, Rosaura Lovaglio, Nicola Bartolomeo, Gabriella Serio, Nicoletta Resta
Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the NF1 gene encoding for the large protein, neurofibromin. Genetic testing of NF1 is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. In addition, the most recognizable NF1 clinical features—café-au-lait (CALs) spots and axillary and/or inguinal freckling—appear early in childhood but are rather non-specific. Thus, the identification of causative variants is extremely important for early diagnosis, especially in paediatric patients...
April 17, 2018: Genes
https://www.readbyqxmd.com/read/29670726/decayed-missing-and-restored-teeth-in-patients-with-neurofibromatosis-type-1
#2
Reinhard E Friedrich, Anika Reul
Background: NF1 is a relatively frequently occurring autosomal dominant inherited disease. There are conflicting reports about oral health status in NF1. The aim of this study was to analyze the dental status of patients with neurofibromatosis type 1 (NF1). Material and Methods: Radiographs of 179 patients with NF1 were analyzed for decayed, missing, and filled teeth (DMFT) in a cross-sectional, retrospective study. The results were compared to age- and sex-matched controls of individuals not affected by NF1...
February 2018: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/29670214/restoring-functional-neurofibromin-by-protein-transduction
#3
K Mellert, S Lechner, M Lüdeke, M Lamla, P Möller, R Kemkemer, K Scheffzek, D Kaufmann
In Neurofibromatosis 1 (NF1) germ line loss of function mutations result in reduction of cellular neurofibromin content (NF1+/-, NF1 haploinsufficiency). The Ras-GAP neurofibromin is a very large cytoplasmic protein (2818 AA, 319 kDa) involved in the RAS-MAPK pathway. Aside from regulation of proliferation, it is involved in mechanosensoric of cells. We investigated neurofibromin replacement in cultured human fibroblasts showing reduced amount of neurofibromin. Full length neurofibromin was produced recombinantly in insect cells and purified...
April 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29667706/preliteracy-impairments-in-children-with-neurofibromatosis-type-1
#4
Shelley S Arnold, Jonathan M Payne, Jennifer Lorenzo, Kathryn N North, Belinda Barton
AIM: This cross-sectional study aimed to examine the preliteracy abilities of young children with neurofibromatosis type 1 (NF1) and to identify which of these abilities best predicted conventional literacy (spelling). METHOD: Forty-two children with NF1 (23 males, 19 females; mean age [SD] 5y 6mo [6mo]) were compared with 32 unaffected children (15 males, 17 females; mean age [SD] 5y 4mo [6mo]). All children completed a comprehensive cognitive assessment including measures of phonological processing (phonological awareness, phonological memory, rapid automatic naming) and letter-sound knowledge...
April 18, 2018: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29667529/emerging-therapeutic-targets-for-neurofibromatosis-type-1
#5
James A Walker, Meena Upadhyaya
Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited tumor predisposition syndrome with an incidence of one in 3000-4000 individuals with no currently effective therapies. The NF1 gene on chromosome 17 encodes neurofibromin, which functions as a negative regulator of RAS. NF1 is a chronic multi-system disorder affecting many different tissues. Due to cell-specific complexities of RAS signaling, therapeutic approaches for NF1 will likely have to focus on a particular tissue and manifestation of the disease...
April 18, 2018: Expert Opinion on Therapeutic Targets
https://www.readbyqxmd.com/read/29666462/tranilast-inhibits-the-expression-of-genes-related-to-epithelial-mesenchymal-transition-and-angiogenesis-in-neurofibromin-deficient-cells
#6
Ritsuko Harigai, Shigeki Sakai, Hiroyuki Nobusue, Chikako Hirose, Oltea Sampetrean, Noriaki Minami, Yukie Hata, Takashi Kasama, Takanori Hirose, Toshiki Takenouchi, Kenjiro Kosaki, Kazuo Kishi, Hideyuki Saya, Yoshimi Arima
Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regulates the small GTPase Ras, with the constitutive activation of Ras signalling resulting from NF1 mutations being thought to underlie neurofibroma development. We previously showed that knockdown of neurofibromin triggers epithelial-mesenchymal transition (EMT) signalling and that such signalling is activated in NF1-associated neurofibromas...
April 17, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29662612/exploiting-mitochondrial-and-metabolic-homeostasis-as-a-vulnerability-in-nf1-deficient-cells
#7
Robert J Allaway, Matthew D Wood, Sondra L Downey, Stephanie J Bouley, Nicole A Traphagen, Jason D Wells, Jaya Batra, Sir Norman Melancon, Carol Ringelberg, William Seibel, Nancy Ratner, Yolanda Sanchez
Neurofibromatosis type 1 is a disease caused by mutation of neurofibromin 1 ( NF1 ), loss of which results in hyperactive Ras signaling and a concomitant increase in cell proliferation and survival. Patients with neurofibromatosis type 1 frequently develop tumors such as plexiform neurofibromas and malignant peripheral nerve sheath tumors. Mutation of NF1 or loss of the NF1 protein is also observed in glioblastoma, lung adenocarcinoma, and ovarian cancer among other sporadic cancers. A therapy that selectively targets NF1 deficient tumors would substantially advance our ability to treat these malignancies...
March 23, 2018: Oncotarget
https://www.readbyqxmd.com/read/29660026/familial-syndromes-involving-meningiomas-provide-mechanistic-insight-into-sporadic-disease
#8
Keith Kerr, Krista Qualmann, Yoshua Esquenazi, John Hagan, Dong H Kim
Currently, there is an incomplete understanding of the molecular pathogenesis of meningiomas, the most common primary brain tumor. Several familial syndromes are characterized by increased meningioma risk, and the genetics of these syndromes provides mechanistic insight into sporadic disease. The best defined of these syndromes is neurofibromatosis type 2, which is caused by a mutation in the NF2 gene and has a meningioma incidence of approximately 50%. This finding led to the subsequent discovery that NF2 loss-of-function occurs in up to 60% of sporadic tumors...
April 11, 2018: Neurosurgery
https://www.readbyqxmd.com/read/29659143/rasopathies-are-associated-with-a-distinct-personality-profile
#9
Varoona Bizaoui, Jessica Gage, Rita Brar, Katherine A Rauen, Lauren A Weiss
Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Eighty subjects diagnosed with cardiofaciocutaneous syndrome, Costello syndrome, neurofibromatosis type 1, and Noonan syndrome were assessed using a parent-report BFQ-C (Big Five Questionnaire for Children) evaluating agreeableness, extraversion, conscientiousness, intellect/openness, and neuroticism, along with 55 unaffected sibling controls...
April 16, 2018: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics
https://www.readbyqxmd.com/read/29655575/crmp2-neurofibromin-interface-drives-nf1-related-pain
#10
Aubin Moutal, Li Sun, Xiaofang Yang, Wennan Li, Song Cai, Shizhen Luo, Rajesh Khanna
An understudied symptom of the genetic disorder Neurofibromatosis type 1 (NF1) is chronic idiopathic pain. We used targeted editing of Nf1 in rats to provide direct evidence of a causal relationship between neurofibromin, the protein product of the Nf1 gene, and pain responses. Our study data identified a protein-interaction network with collapsin response meditator protein 2 (CRMP2) as a node and neurofibromin, syntaxin 1A, and the N-type voltage-gated calcium (CaV2.2) channel as interaction edges. Neurofibromin uncouples CRMP2 from syntaxin 1A...
April 12, 2018: Neuroscience
https://www.readbyqxmd.com/read/29644913/possible-modifier-genes-in-the-variation-of-neurofibromatosis-type-1-clinical-phenotypes
#11
Parisa Sharafi, Sükriye Ayter
Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype-phenotype correlations. Therefore, variations in NF1 mutations may not correlate with the variations in clinical phenotype. Indeed, for the same mutation, some NF1 patients may develop severe clinical symptoms whereas others will develop a mild phenotype...
April 12, 2018: Journal of Neurogenetics
https://www.readbyqxmd.com/read/29629523/attention-deficit-hyperactivity-disorder-in-neurofibromatosis-type-1-evaluation-with-a-continuous-performance-test
#12
Rony Cohen, Ayelet Halevy, Sharon Aharon, Avinoam Shuper
BACKGROUND AND PURPOSE: The objective of this study was to determine if the MOXO visual- and vocal-distractors-based continuous performance test distinguishes patients with attention deficit hyperactivity disorder (ADHD) and neurofibromatosis type 1 (NF1) from those without NF1. METHODS: Thirty-five patients (16 males; mean age 9.91 years) attending a multidisciplinary NF1 clinic completed the MOXO test. The findings were compared to 532 healthy age-matched standardized control subjects (285 males) without ADHD...
April 2018: Journal of Clinical Neurology
https://www.readbyqxmd.com/read/29628596/subarachnoid-block-a-safe-choice-for-cesarean-section-in-neurofibromatosis-patient-with-severe-kyphoscoliosis
#13
Ibrahim Demir, Ebru Tarıkçı Kılıç, Mehmet Salim Akdemir
Neurofibromatosis type 1 (NF1) is an autosomal-dominant neuroectodermal hereditary disorder, in which spinal skeletal deformities are one of the manifestations. Pectus carinatum, temporomandibular joint dysfunction, and kyphoscoliosis can be seen with this genetic disorder which can lead to cardiorespiratory system problems and can cause difficulty in airway management. We present the anesthetic management of a NF1 patient with a sharp thoracolumbar dystrophic kyphoscoliosis who have been posted for emergency cesarean section as a result of fetal distress...
January 2018: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/29623209/concurrent-primary-hyperparathyroidism-and-pheochromocytoma-in-a-chinese-lady-with-neurofibromatosis-type-1
#14
Cheuk-Lik Wong, Chun-Kit Fok, Vicki Ho-Kee Tam
We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma...
2018: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/29618358/clinical-and-molecular-characterization-of-112-single-center-patients-with-neurofibromatosis-type-1
#15
Giovanni Corsello, Vincenzo Antona, Gregorio Serra, Federico Zara, Clara Giambrone, Luca Lagalla, Maria Piccione, Ettore Piro
BACKGROUND: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features...
April 4, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29616298/intracranial-malignant-peripheral-nerve-sheath-tumor-variant-an-unusual-neurovascular-phenotype-sarcoma-case-invading-through-the-petrous-bone
#16
Oliver D Mrowczynski, Robert J Greiner, Malika Kapadia, Julie C Fanburg-Smith, Mark R Iantosca, Elias B Rizk
INTRODUCTION: Intracranial malignant peripheral nerve sheath tumor (MPNST) is exceedingly rare. Previously reported cases of intracranial MPNST have been associated with development within a prominent cranial nerve. METHODS: This is the first report of an MPNST with both nerve sheath and vascular phenotype that follows the neurovascular bundle, without arising in a major cranial nerve or in the setting of neurofibromatosis type 1 (NF1). RESULTS: The patient is a 14-year-old boy with a history of worsening headaches for the past several months, left-sided hearing loss, nausea, vomiting, and vertigo...
April 3, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29613853/non-invasive-prenatal-diagnosis-of-paternally-inherited-disorders-from-maternal-plasma-detection-of-nf1-and-cftr-mutations-using-droplet-digital-pcr
#17
Aurélia Gruber, Mathilde Pacault, Laila Allach El Khattabi, Nicolas Vaucouleur, Lucie Orhant, Thierry Bienvenu, Emmanuelle Girodon, Dominique Vidaud, France Leturcq, Catherine Costa, Franck Letourneur, Olivia Anselem, Vassilis Tsatsaris, François Goffinet, Géraldine Viot, Michel Vidaud, Juliette Nectoux
BACKGROUND: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR). METHODS: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations...
April 25, 2018: Clinical Chemistry and Laboratory Medicine: CCLM
https://www.readbyqxmd.com/read/29610060/comparison-of-the-detectability-of-ubos-in-neurofibromatosis-type-i-patients-with-proton-density-weighted-and-flair-sequences-in-3t-mri
#18
S Tritt, N Hillenbrand, K Liesirova, G Moein, M Kieslich, L Porto
OBJECTIVE: In NF 1 patients, significant numbers of so-called unidentified bright objects (UBOs) can be found. The aim of the study was to investigate whether the detectability of UBOs increases at 3T by comparing Proton density-weighted images (PDw) with fluid-attenuated inversion recovery (FLAIR) sequences. PATIENTS AND METHODS: A total of 14 NF1 patients (7 male, 7 female, between 8 and 26 years old, mean age 15.4 years) were examined by a 3T magnetic resonance scanner...
March 2, 2018: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/29607552/pathophysiology-and-management-of-glaucoma-associated-with-phakomatoses
#19
REVIEW
Alisa T Thavikulwat, Deepak P Edward, Abdulrahman AlDarrab, Thasarat S Vajaranant
The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe...
April 1, 2018: Journal of Neuroscience Research
https://www.readbyqxmd.com/read/29602482/-neurofibromatosis-as-a-cause-of-breathlessness
#20
A Palot, C Ferrandez, K Alagha, A Ilstad-Minnihan, C Tummino, M Gouitaa, D Charpin, P Chanez
INTRODUCTION: Type 1 neurofibromatosis, also called "Recklinghausen's disease" is among the most frequent autosomal dominant genetic disorders, with an incidence of 1:3500 births. It mainly affects the skin and peripheral nervous system. However, in its less frequent manifestations, are tumors such as meningocele and skeletal dysplasias leading to severe clinical presentation. CASE REPORT: We report the case of a 55-year-old patient with type 1 neurofibromatosis and dyspnea due to a large left thoracic meningocele combined with a significant kyphoscoliosis, causing a severe restrictive ventilatory defect, complicated by chronic respiratory failure and pulmonary hypertension...
March 27, 2018: Revue des Maladies Respiratoires
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