Premium
Large intragenic deletions of the NF2 gene: Breakpoints and associated phenotypes
Author(s) -
AboDalo Benjamin,
Kutsche Kerstin,
Mautner Victor,
Kluwe Lan
Publication year - 2010
Publication title -
genes, chromosomes and cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.754
H-Index - 119
eISSN - 1098-2264
pISSN - 1045-2257
DOI - 10.1002/gcc.20733
Subject(s) - breakpoint , genetics , exon , biology , gene , phenotype , intron , multiplex ligation dependent probe amplification , non allelic homologous recombination , homologous recombination , recombination , mutation , gene rearrangement , microbiology and biotechnology , genetic recombination , chromosome
In this study, the breakpoints of six large intragenic deletions in the NF2 gene are determined, which had initially been detected by multiplex ligation‐dependent probe amplification. While one breakpoint occurred within an exon, the remaining 11 lied in the corresponding flanking introns. Two of the deletions were most likely caused by nonallelic homologous recombination between Alu sequences, while the other four appeared to be the result of nonhomologous endjoining, possibly facilitated by rearrangement‐promoting elements at the junctions in some cases. The clinical features of patients with large intragenic deletions and individuals with mutations affecting single or multiple nucleotides of the NF2 gene are relatively similar. However, patients with deletions of the 3′ exons 15 and 16 of the NF2 gene did exhibit milder phenotypes, especially with respect to the age of disease onset. © 2009 Wiley‐Liss, Inc.