Clinical diagnosis of neurofibromatosis type I in multiple family members due to cosegregation of a unique balanced translocation with disruption of the NF1 locus: Testing considerations for accurate diagnosis.

Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that causes a predisposition to develop tumors along the peripheral nervous system. The NF1 gene, located at 17q11.2, has the highest mutation rate among known human genes and about half of NF1 patients have de novo pathogenic variants.

Factors associated with parental knowledge of neurofibromatosis type 1 (NF1): Parental affected status and genetic counseling.

Neurofibromatosis type 1 (NF1) is a genetic condition characterized by various cutaneous, neurological and psychological manifestations. The present study examined whether parental knowledge of NF1 is associated with a parent's NF1 status, affected or unaffected, and exposure to genetic counseling. Parents of children with NF1 were invited to complete an online survey answering true or false and multiple-choice questions to evaluate their overall knowledge of NF1.