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PURPOSE: Neurofibromatosis type 1 (NF1) is a common autosomal dominant disorder with an estimated incidence of one in 3,500 births. Clinically, NF1 is characterized by café-au-lait (CAL) spots, neurofibromas, freckling of the axillary or inguinal region, Lisch nodules, optic nerve glioma, and bone dysplasias. NF1 is caused by inactivating mutations of the 17q11.2-located NF1 gene. We present a clinical and molecular study of an Italian family with NF1. METHODS: The proband, a 10-year-old boy, showed large CAL spots and freckling on the axillary region and plexiform neurofibromas on the right side only. His father (47 years old) showed, in addition to the similar signs, numerous neurofibromas of various sizes on his thorax, abdomen, back, and shoulder. Two additional family members (a brother and a sister of the proband) presented only small CAL spots. The coding exons of NF1 gene were analyzed for mutations by denaturing high-performance liquid chromatography and sequencing in all family members. RESULTS: The mutational analysis of the NF1 gene revealed a novel frameshift insertion mutation in exon 4c (c.654 ins A) in all affected family members. This novel mutation creates a shift on the reading frame starting at codon 218 and leads to the introduction of a premature stop at codon 227. CONCLUSIONS: The segregation of the mutation with the affected phenotype and its absence in the 200 normal chromosomes suggest that it is responsible for the NF1 phenotype.

Original publication

DOI

10.1007/s00381-010-1282-z

Type

Journal article

Journal

Childs Nerv Syst

Publication Date

04/2011

Volume

27

Pages

635 - 638

Keywords

Base Sequence, Cafe-au-Lait Spots, Child, Chromatography, High Pressure Liquid, DNA Mutational Analysis, Family, Female, Frameshift Mutation, Genes, Neurofibromatosis 1, Humans, Italy, Male, Middle Aged, Molecular Sequence Data, Neurofibromatosis 1, Pedigree, Polymerase Chain Reaction