Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

Mirjana Kocova; Elena Kochova; Elena Sukarova-Angelovska

doi:10.1186/s12902-015-0076-4

Optic glioma and precocious puberty in a girl with neurofibromatosis type 1 carrying an R681X mutation of NF1: case report and review of the literature

Journal

BMC Endocrine Disorders

Date Issued

2015-12-15

Author(s)

Elena Kochova

DOI

10.1186/s12902-015-0076-4

Abstract

Neurofibromatosis type 1 (NF1) is a common autosomal dominant genetic disorder with an extremely variable phenotype. In childhood NF1 can be associated with optic glioma and central precocious puberty; the latter is more common when the optic chiasm is affected. The mutational spectrum of the NF1 gene is wide and complex; R681X is a rare severe mutation of the NF1 gene known to cause truncation of neurofibromin, with only ten reported cases in the literature so far.