scholarly journals Exonic Deletions in the NF1 Gene in Patients with Neurofibromatosis Type I from the Lower Silesian Region of Poland

2014 ◽  
Vol 23 (4) ◽  
pp. 517-521 ◽  
Author(s):  
Izabela Łaczmańska ◽  
Małgorzata Szczepaniak ◽  
Aleksandra Jakubiak ◽  
Agnieszka Stembalska
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Nf1 Gene

scholarly journals Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

2015 ◽  
Vol 2015 ◽  
pp. 1-4
Author(s):  
Ali Al Kaissi ◽  
Klaus Klaushofer ◽  
Franz Grill ◽  
Rudolf Ganger
Keyword(s):  
Early Life ◽  
Neurofibromatosis Type ◽  
Lower Limbs ◽  
Wedge Osteotomy ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Café Au Lait Spots ◽  
Nf1 Gene ◽  
Recklinghausen Disease ◽  
Von Recklinghausen

An 8-year-old girl was referred to our department because of generalized bowing of long bones (radii, ulnae, and femora) and significant bilateral and symmetrical posteromedial bowing of the tibiae and fibulae. The femora were laterally bowed whereas the tibiae and fibulae showed posteromedial bowing between the middle and distal thirds of the tibia with posterior cortical thickening effectively causing the development of bilateral congenital anterolateral bowing of the tibiae and fibulae. We referred to closing-wedge osteotomy of the left tibia along with fibular osteotomy in order to realign the deformity. Due to the delayed appearance of skin stigmata in her early life, the diagnosis of neurofibromatosis was ruled out. At the age of 9 years, café-au-lait spots and axillary freckling were apparent. Genetic tests confirmed von Recklinghausen disease (neurofibromatosis type-I (NF1)) (gene has been localised to 17q22). Interestingly, bilateral and symmetrical anteromedial bowing of the tibiae and fibulae has not been described in patients with NF-I.

scholarly journals Genetic analyses of the NF1 gene in Turkish neurofibromatosis type I patients and definition of three novel variants

2017 ◽  
Vol 20 (1) ◽  
pp. 13-20 ◽  
Author(s):  
SD Ulusal ◽  
H Gürkan ◽  
E Atlı ◽  
SA Özal ◽  
M Çiftdemir ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Genetic Diagnosis ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Next Generation ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Nf1 Gene ◽  
Generation Sequencing

Abstract Neurofibromatosis Type I (NF1) is a multi systemic autosomal dominant neurocutaneous disorder predisposing patients to have benign and/or malignant lesions predominantly of the skin, nervous system and bone. Loss of function mutations or deletions of the NF1 gene is responsible for NF1 disease. Involvement of various pathogenic variants, the size of the gene and presence of pseudogenes makes it difficult to analyze. We aimed to report the results of 2 years of multiplex ligation-dependent probe amplification (MLPA) and next generation sequencing (NGS) for genetic diagnosis of NF1 applied at our genetic diagnosis center. The MLPA, semiconductor sequencing and Sanger sequencing were performed in genomic DNA samples from 24 unrelated patients and their affected family members referred to our center suspected of having NF1. In total, three novel and 12 known pathogenic variants and a whole gene deletion were determined. We suggest that next generation sequencing is a practical tool for genetic analysis of NF1. Deletion/duplication analysis with MLPA may also be helpful for patients clinically diagnosed to carry NF1 but do not have a detectable mutation in NGS.

The mutational spectrum of the NF1 gene in neurofibromatosis type I patients from UAE

2014 ◽  
Vol 30 (7) ◽  
pp. 1183-1189 ◽  
Author(s):  
Salma Ben-Salem ◽  
Aisha M. Al-Shamsi ◽  
Bassam R. Ali ◽  
Lihadh Al-Gazali
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Mutational Spectrum ◽  
Nf1 Gene

scholarly journals Neurofibromatosis type I and multiple myeloma coexistence: A possible link?

2018 ◽  
Vol 10 (1) ◽  
Author(s):  
Fabrizio Accardi ◽  
Valentina Marchica ◽  
Cristina Mancini ◽  
Elena Maredi ◽  
Costantina Racano ◽  
...  
Keyword(s):  
Multiple Myeloma ◽  
Gene Mutations ◽  
Neurofibromatosis Type ◽  
Plasma Cell Dyscrasia ◽  
Molecular Testing ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
Increased Risk ◽  
Nf1 Gene ◽  
Potential Link

The association between Neurofibromatosis type I (NF1) and multiple myeloma (MM), a plasma cell, dyscrasia is very rare. Here we put to the attention of the scientific community two new cases. The first one is a patient with active MM whereas the second with smoldering MM. Both patients present typical features of NF1 but skeletal alterations were present only in the second case including dysplasia, marked scoliosis and osteoporosis. MM osteolytic lesions were absent in both patients. In addition to the clinical diagnosis of NF1, a molecular testing for NF1 gene mutations has been performed finding that patient one was heterozygous for the c.6855C>A (Tyr2285Ter) mutation, whilepatient two was heterozygous for thec.7838dupC (Lys2614GlufsTer20) mutation. The two mutations were diagnosed both in genomic DNA from peripheral blood and from MM cells. The potential link between NF1 mutation and the increased risk of MM is discussed in the report.

scholarly journals Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

2021 ◽  
Author(s):  
Matteo Riva ◽  
Davide Martorana ◽  
Vera Uliana ◽  
Edoardo Caleffi ◽  
Elena Boschi ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Gene Variants ◽  
Neurofibromatosis Type I ◽  
Nf1 Gene

Can 18FDG-PET detect malignant transformation of neurofibromas in patients with neurofibromatosis type I?

2006 ◽  
Vol 37 (06) ◽  
Author(s):  
J Neinert ◽  
E Fastnacht ◽  
R Larisch ◽  
E Legius ◽  
R Engelskirchen ◽  
...  
Keyword(s):  
Malignant Transformation ◽  
Neurofibromatosis Type ◽  
Type I ◽  
Neurofibromatosis Type I ◽  
18Fdg Pet
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