title: BRAF gene deletion broadens the clinical spectrum neuro-cardio-facial-cutaneous syndromes.
abstract: Point mutations in the human BRAF gene are associated with a group of heterogeneous autosomal dominant neuro-cardio-facial-cutaneous syndromes. We identified a novel 93 kb intragenic deletion of the BRAF gene in a boy with severe developmental encephalopathy using microarray-based comparative genomic hybridization. The unique genotype and phenotype in this patient expands the spectrum of BRAF-related neurodevelopmental disorders. We propose a BRAF gene loss-of-function mechanism to best explain the biological basis of this severe developmental encephalopathy with postnatal growth deficiency.
authors.affiliation: Department of Pathology, University of Missouri-Kansas City School of Medicine, Kansas City, Missouri, USA.
authors.forename: Shihui
authors.initials: S
authors.lastname: Yu
authors.forename: William D
authors.initials: WD
authors.lastname: Graf
mesh_terms: D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics; D004569:Electroencephalography; D005148:Facial Dermatoses / Q000150:complications / Q000235:genetics*; D006331:Heart Diseases / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D046228:Microarray Analysis; D009422:Nervous System Diseases / Q000150:complications / Q000235:genetics; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf