Neurofibromatosis type 1: Expanded variant spectrum with multiplex ligation‐dependent probe amplification and genotype–phenotype correlation in 138 Turkish patients

2021 ◽  
Author(s):  
Nilay Güneş ◽  
Gözde Yeşil ◽  
Filiz Geyik ◽  
Büşra Kasap ◽  
Tiraje Celkan ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Turkish Patients ◽  
Dependent Probe

Neurofibromatosis type 1 without cutaneous neurofibromas: a rare genotype-phenotype correlation?

2020 ◽  
Vol 30 (5) ◽  
pp. 608-609
Author(s):  
Tokimasa Hida ◽  
Masashi Idogawa ◽  
Aki Ishikawa ◽  
Miyako Mizukami ◽  
Junji Kato ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Cutaneous Neurofibromas

scholarly journals A rare case of patient with neurofibromatosis type 1 in a genotype-phenotype correlation revealing a submicroscopic deletion on the long arm of chromosome 17

2021 ◽  
Author(s):  
Vityala Yethindra ◽  
Tugolbai Tagaev ◽  
Elmira Mainazarova ◽  
Cholpon Dzhumakova ◽  
Asel Namazbekova
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Rare Case ◽  
Neurofibromatosis Type ◽  
Chromosome 17 ◽  
Chromosomal Microarray ◽  
Severe Phenotype ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation ◽  
Submicroscopic Deletion

We are reporting a case of neurofibromatosis type 1 in a genotype-phenotype correlation and chromosomal microarray test revealed a submicroscopic deletion on the long arm of chromosome 17, which is associated with a more severe phenotype. The presence of a more severe phenotype warrants precise monitoring of complications.

scholarly journals Arg1809 substitution in neurofibromin: further evidence of a genotype–phenotype correlation in neurofibromatosis type 1

2015 ◽  
Vol 23 (11) ◽  
pp. 1460-1461 ◽  
Author(s):  
Claudia Santoro ◽  
Anna Maietta ◽  
Teresa Giugliano ◽  
Daniela Melis ◽  
Silverio Perrotta ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Phenotype Correlation ◽  
Genotype Phenotype Correlation

scholarly journals Clinical and Genetic Findings in Children with Neurofibromatosis Type 1, Legius Syndrome, and Other Related Neurocutaneous Disorders

Genes ◽  
2019 ◽  
Vol 10 (8) ◽  
pp. 580 ◽  
Author(s):  
Teresa Giugliano ◽  
Claudia Santoro ◽  
Annalaura Torella ◽  
Francesca Del Vecchio Blanco ◽  
Anna Grandone ◽  
...  
Keyword(s):  
Molecular Diagnosis ◽  
Neurofibromatosis Type 1 ◽  
Target Genes ◽  
Positive Impact ◽  
Neurofibromatosis Type ◽  
Legius Syndrome ◽  
Almost All ◽  
Dependent Probe

Pigmentary manifestations can represent an early clinical sign in children affected by Neurofibromatosis type 1 (NF1), Legius syndrome, and other neurocutaneous disorders. The differential molecular diagnosis of these pathologies is a challenge that can now be met by combining next generation sequencing of target genes with concurrent second-level tests, such as multiplex ligation-dependent probe amplification and RNA analysis. We clinically and genetically investigated 281 patients, almost all pediatric cases, presenting with either NF1 (n = 150), only pigmentary features (café au lait macules with or without freckling; (n = 95), or clinical suspicion of other RASopathies or neurocutaneous disorders (n = 36). The causative variant was identified in 239 out of the 281 patients analyzed (85.1%), while 42 patients remained undiagnosed (14.9%). The NF1 and SPRED1 genes were mutated in 73.3% and 2.8% of cases, respectively. The remaining 8.9% carried mutations in different genes associated with other disorders. We achieved a molecular diagnosis in 69.5% of cases with only pigmentary manifestations, allowing a more appropriate clinical management of these patients. Our findings, together with the increasing availability and sharing of clinical and genetic data, will help to identify further novel genotype–phenotype associations that may have a positive impact on patient follow-up.

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