A novel NF1 gene mutation in an Italian family with neurofibromatosis type 1
- نوع فایل : کتاب
- زبان : انگلیسی
- مؤلف : Anna Lia Gabriele & Martino Ruggieri & Alessandra Patitucci & Angela Magariello & Francesca Luisa Conforti & Rosalucia Mazzei & Maria Muglia & Carmine
- چاپ و سال / کشور: 2010
Description
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.
Childs Nerv Syst (2011) 27:635–638 DOI 10.1007/s00381-010-1282-z Received: 5 August 2010 / Accepted: 9 September 2010 / Published online: 7 October 2010
