Korean J Pediatr.  2014 Sep;57(9):410-415. 10.3345/kjp.2014.57.9.410.

Neurofibromatosis type 1: a single center's experience in Korea

• Kim MJ
• Cheon CK

• KMID: 1727496
• DOI: http://doi.org/10.3345/kjp.2014.57.9.410

Abstract

PURPOSE
Neurofibromatosis 1 (NF1) is an autosomal dominant condition caused by an NF1 gene mutation. NF1 is also a multisystem disorder that primarily affects the skin and nervous system. The goal of this study was to delineate the phenotypic characterization and assess the NF1 mutational spectrum in patients with NF1.
METHODS
A total of 42 patients, 14 females and 28 males, were enrolled in this study. Clinical manifestations and results of the genetic study were retrospectively reviewed.
RESULTS
Age of the patients at the time of NF1 diagnosis was 15.8+/-14.6 years (range, 1-62 years). Twelve patients (28.6%) had a family history of NF1. Among the 42 patients, Cafe-au-lait spots were shown in 42 (100%), neurofibroma in 31 (73.8%), freckling in 22 (52.4%), and Lisch nodules in seven (16.7%). The most common abnormal finding in the brain was hamartoma (20%). Mental retardation was observed in five patients (11.9%), seizures in one patient (2.4%), and plexiform neurofibromas (PNFs) in four patients (9.5%). One patient with PNFs died due to a malignant peripheral nerve sheath tumor in the chest cavity. Genetic analysis of seven patients identified six single base substitutions (three missense and three nonsense) and one small deletion. Among these mutations, five (71.4%) were novel (two missense mutations: p.Leu1773Pro, p.His1170Leu; two nonsense mutations: p.Arg2517*, p.Cys2371*; one small deletion: p.Leu1944Phefs*6).
CONCLUSION
The clinical characteristics of 42 Korean patients with NF1 were extremely variable and the mutations of the NF1 gene were genetically heterogeneous with a high mutation-detection rate.

Keyword

Neurofibromatosis 1; Neurofibromatosis 1 genes; Clinical characteristics

MeSH Terms

Brain
Cafe-au-Lait Spots
Codon, Nonsense
Diagnosis
Female
Genes, Neurofibromatosis 1
Hamartoma
Humans
Intellectual Disability
Korea
Male
Mutation, Missense
Nervous System
Neurofibroma
Neurofibroma, Plexiform
Neurofibromatosis 1*
Peripheral Nerves
Retrospective Studies
Seizures
Skin
Thorax
Codon, Nonsense