Loading...
Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype
Napolitano, Filomena Dell'Aquila, Milena Terracciano, Chiara Franzese, Giuseppina Gentile, Maria Teresa Piluso, Giulio Santoro, Claudia Colavito, Davide Patanè, Anna De Blasiis, Paolo
Napolitano, Filomena
Dell'Aquila, Milena
Terracciano, Chiara
Franzese, Giuseppina
Gentile, Maria Teresa
Piluso, Giulio
Santoro, Claudia
Colavito, Davide
Patanè, Anna
De Blasiis, Paolo
Citations
Altmetric:
Genre
Journal article
Date
2022-06-23
Advisor
Committee member
Department
Permanent link to this record
Collections
Research Projects
Organizational Units
Journal Issue
DOI
http://dx.doi.org/10.3390/genes13071130
Abstract
Neurofibromatosis type 1 (NF1) is one of the most common genetic tumor predisposition syndrome, caused by mutations in the NF1. To date, few genotype-phenotype correlations have been discerned in NF1, due to a highly variable clinical presentation. We aimed to study the molecular spectrum of NF1 and genotype-phenotype correlations in a monocentric study cohort of 85 NF1 patients (20 relatives, 65 sporadic cases). Clinical data were collected at the time of the mutation analysis and reviewed for accuracy in this investigation. An internal phenotypic categorization was applied. The 94% of the patients enrolled showed a severe phenotype with at least one systemic complication and a wide range of associated malignancies. Spine deformities were the most common complications in this cohort. We also reported 66 different NF1 mutations, of which 7 are novel mutations. Correlation analysis identified a slight significant inverse correlation between age at diagnosis and delayed acquisition of psychomotor skills with residual multi-domain cognitive impairment. Odds ratio with 95% confidence interval showed a higher prevalence of learning disabilities in patients carrying frameshift mutations. Overall, our results aim to offer an interesting contribution to studies on the genotype–phenotype of NF1 and in genetic management and counselling.
Description
Citation
Napolitano, F.; Dell’Aquila, M.; Terracciano, C.; Franzese, G.; Gentile, M.T.; Piluso, G.; Santoro, C.; Colavito, D.; Patanè, A.; De Blasiis, P.; et al. Genotype-Phenotype Correlations in Neurofibromatosis Type 1: Identification of Novel and Recurrent NF1 Gene Variants and Correlations with Neurocognitive Phenotype. Genes 2022, 13, 1130. https://doi.org/10.3390/genes13071130
Citation to related work
MDPI
Has part
Genes, Vol. 13, Iss. 7
ADA compliance
For Americans with Disabilities Act (ADA) accommodation, including help with reading this content, please contact scholarshare@temple.edu