A deletion causing NF2 exon 9 skipping is associated with familial autosomal dominant intramedullary ependymoma.

ABSTRACT:

Background

Intramedullary ependymomas are rare and benign tumors in the adult. Little is known about their physiopathology, but the implication of the NF2 gene is suspected because of their presence in a third of patients with type 2 neurofibromatosis (NF2), a disorder caused by mutation of the NF2 gene.

Methods

We conducted a clinical and genetic study of a family in which 5 of 9 members suffered from intramedullary ependymoma. Karyotyping and CGH array analysis were performed on DNA from peripheral blood lymphocytes from affected participants. The NF2 gene sequences were then determined in DNA from 3 nonaffected and all 5 affected members of the family.

Results

Karyotype and CGH array findings were normal. Sequencing of NF2 revealed a heterozygous deletion, c.811-39

SUBMITTER: Zemmoura I 

PROVIDER: S-EPMC3895380 | biostudies-literature | 2014 Jan

REPOSITORIES: biostudies-literature