Rare Co-occurrence of Two Mutational Variants in NF1: Molecular Testing Reveals Diagnostic Surprises

Abstract

Neurofibromatosis type 1 (NF1; MIM #162200), commonly called von Recklinghausen disease, is a frequently encountered genetic condition transmitted via autosomal dominant inheritance. It is characterized by a spectrum of neurocutaneous symptoms, such as café-au-lait patches, freckling in skin folds, various types of neurofibroma (including dermal and plexiform), as well as neurological and skeletal complications. The condition affects approximately 1 in every 3,000 to 4,000 people. Separately, co