Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Juan A Perez-ValenciaRichard GallonYunjia ChenJakob KochMarkus KellerKlaus OberhuberAlicia GomesJohannes ZschockeJohn BurnMichael S JacksonMauro Santibanez-KorefLudwine MessiaenKatharina WimmerPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Our empirical data provide reliable numbers for genetic counseling and confirm previous prevalence estimations, on which Care for CMMRD consortium guidelines are based. These advocate CMMRD testing of preselected patients rather than offering reflex testing to all suspected sporadic NF1 children lacking NF1/SPRED1 PVs. The possibility of founder effects should be considered alongside these testing guidelines.
Keyphrases
- signaling pathway
- lps induced
- young adults
- end stage renal disease
- pi k akt
- nuclear factor
- late onset
- oxidative stress
- pulmonary embolism
- ejection fraction
- newly diagnosed
- healthcare
- clinical practice
- chronic kidney disease
- palliative care
- amyotrophic lateral sclerosis
- risk factors
- gene expression
- inflammatory response
- dna methylation
- immune response
- quality improvement
- toll like receptor
- big data
- replacement therapy
- deep learning
- early onset
- chronic pain
- artificial intelligence
- patient reported
- hiv testing