FLNA genomic rearrangements cause periventricular nodular heterotopia.

ABSTRACT:

Objective

To identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative.

Methods

Screening of 35 patients from 33 pedigrees on an Affymetrix 6.0 microarray led to the identification of one individual bearing a CNV that disrupted FLNA. FLNA-disrupting CNVs were also isolated in 2 other individuals by multiplex ligation probe amplification. These 3 cases were further characterized by high-resolution oligo array comparative genomic hybridization (CGH), and the precise junctional breakpoints of the rearrangements were identified by PCR amplification and sequencing.

Results

We report 3 cases of PNH caused by nonrecurrent genomic rearrangements that disrupt one copy of FLNA. The first individual ca

SUBMITTER: Clapham KR 

PROVIDER: S-EPMC3280053 | biostudies-literature | 2012 Jan

REPOSITORIES: biostudies-literature