Neurofibromatosis type 1 gene as a mutational target in a mismatch repair-deficient cell type

2003 ◽  
Vol 112 (2) ◽  
pp. 117-123 ◽  
Author(s):  
Qing Wang ◽  
Gilles Montmain ◽  
Eric Ruano ◽  
Meena Upadhyaya ◽  
Sandra Dudley ◽  
...  
Keyword(s):  
Mismatch Repair ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Cell Type ◽  
Deficient Cell

scholarly journals Constitutional mismatch repair deficiency as a differential diagnosis of neurofibromatosis type 1: consensus guidelines for testing a child without malignancy

2018 ◽  
Vol 56 (2) ◽  
pp. 53-62 ◽  
Author(s):  
Manon Suerink ◽  
Tim Ripperger ◽  
Ludwine Messiaen ◽  
Fred H Menko ◽  
Franck Bourdeaut ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Mismatch Repair ◽  
Neurofibromatosis Type 1 ◽  
Healthy Child ◽  
Neurofibromatosis Type ◽  
Mismatch Repair Deficiency ◽  
Repair Deficiency ◽  
Legius Syndrome ◽  
Constitutional Mismatch Repair Deficiency

Constitutional mismatch repair deficiency (CMMRD) is a rare childhood cancer predisposition syndrome caused by biallelic germline mutations in one of four mismatch-repair genes. Besides very high tumour risks, CMMRD phenotypes are often characterised by the presence of signs reminiscent of neurofibromatosis type 1 (NF1). Because NF1 signs may be present prior to tumour onset, CMMRD is a legitimate differential diagnosis in an otherwise healthy child suspected to have NF1/Legius syndrome without a detectable underlying NF1/SPRED1 germline mutation. However, no guidelines indicate when to counsel and test for CMMRD in this setting. Assuming that CMMRD is rare in these patients and that expected benefits of identifying CMMRD prior to tumour onset should outweigh potential harms associated with CMMRD counselling and testing in this setting, we aimed at elaborating a strategy to preselect, among children suspected to have NF1/Legius syndrome without a causative NF1/SPRED1 mutation and no overt malignancy, those children who have a higher probability of having CMMRD. At an interdisciplinary workshop, we discussed estimations of the frequency of CMMRD as a differential diagnosis of NF1 and potential benefits and harms of CMMRD counselling and testing in a healthy child with no malignancy. Preselection criteria and strategies for counselling and testing were developed and reviewed in two rounds of critical revisions. Existing diagnostic CMMRD criteria were adapted to serve as a guideline as to when to consider CMMRD as differential diagnosis of NF1/Legius syndrome. In addition, counselling and testing strategies are suggested to minimise potential harms.

scholarly journals Do non-pathogenic variants of DNA mismatch repair genes modify neurofibroma load in neurofibromatosis type 1?

2022 ◽  
Author(s):  
Anja Harder
Keyword(s):  
Mismatch Repair ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Tumour Suppressor Genes ◽  
Gene Variants ◽  
Single Nucleotide Variants ◽  
Dna Mismatch ◽  
Pathogenic Variants ◽  
Patients At Risk

AbstractNon-pathogenic mismatch repair (MMR) gene variants can be associated with decreased MMR capacity in several settings. Due to an increased mutation rate, reduced MMR capacity leads to accumulation of somatic sequence changes in tumour suppressor genes such as in the neurofibromatosis type 1 (NF1) gene. Patients with autosomal dominant NF1 typically develop neurofibromas ranging from single to thousands. Concerning the number of neurofibromas NF1 patients face a situation that is still not predictable. A few studies suggested that germline non-pathogenic MMR gene variants modify the number of neurofibromas in NF1 and by this mechanism may promote the extent of neurofibroma manifestation. This review represents first evidence that specific non-pathogenic single nucleotide variants of MMR genes act as a modifier of neurofibroma manifestation in NF1, highlighting MSH2 re4987188 as the best analysed non-pathogenic variant so far. In summary, besides MSH2 promotor methylation, specific non-pathogenic germline MSH2 variants are associated with the extent of neurofibroma manifestation. Those variants can serve as a biomarker to facilitate better mentoring of NF1 patients at risk.

Psychological disturbance and sleep disorders in children with neurofibromatosis type 1

2005 ◽  
Vol 47 (4) ◽  
pp. 237-242 ◽  
Author(s):  
Hilary Johnson ◽  
Luci Wiggs ◽  
Gregory Stores ◽  
Susan M Huson
Keyword(s):  
Sleep Disorders ◽  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type ◽  
Psychological Disturbance

Social information processing of children with Neurofibromatosis Type 1

2008 ◽  
Author(s):  
Jonathan M. Kurss ◽  
Anna E. Craig ◽  
Jennifer Reiter-Purtill ◽  
Kathryn Vannatta ◽  
Cynthia Gerhardt
Keyword(s):  
Information Processing ◽  
Neurofibromatosis Type 1 ◽  
Social Information Processing ◽  
Social Information ◽  
Neurofibromatosis Type

Lovastatin improves impaired LTP-like plasticity in patients with Neurofibromatosis Type 1

2011 ◽  
Vol 42 (01) ◽  
Author(s):  
F. Mainberger ◽  
N. Jung ◽  
M. Zenker ◽  
I. Delvendahl ◽  
U. Wahlländer ◽  
...  
Keyword(s):  
Neurofibromatosis Type 1 ◽  
Neurofibromatosis Type
Sign in / Sign up

Export Citation Format

Share Document