ArticleNeurology2012
FLNA genomic rearrangements cause periventricular nodular heterotopia.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Mutation of FLNA attenuating the migration of abdominal muscles contributed to Melnick-Needles syndrome (MNS) in a family with recurrent miscarriage.Molecular genetics & genomic medicine · 2023Article
- Interaction of LARP4 to filamin A mechanosensing domain regulates cell migrations.Frontiers in cell and developmental biology · 2023Article
- Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.Experimental and therapeutic medicine · 2022Article
- Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.Orphanet journal of rare diseases · 2021Article
- Large palindromes on the primate X Chromosome are preserved by natural selection.Genome research · 2021Article
- International consensus recommendations on the diagnostic work-up for malformations of cortical development.Nature reviews. Neurology · 2020Review
- Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR.Genome research · 2020Article
- Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease.Breathe (Sheffield, England) · 2020Article
- Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.BMC pediatrics · 2019Review
- Periventricular nodular heterotopia in 22q11.2 deletion and frontal lobe migration.Annals of clinical and translational neurology · 2018Article
- Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both?Respiratory medicine case reports · 2018Article
- Lung Transplantation for FLNA-Associated Progressive Lung Disease.The Journal of pediatrics · 2017Article
- Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.PLoS genetics · 2013Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
objectiveTo identify copy number variant (CNV) causes of periventricular nodular heterotopia (PNH) in patients for whom FLNA sequencing is negative.
methodsScreening 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.
resultsWe report 3 cases of PNH caused by nonrecurrent genomic rearrangements that disrupt one copy of FLNA. The first individual carried a 113-kb deletion that removes all but the first exon of FLNA. A second patient harbored a complex rearrangement including a deletion of the 3' end of FLNA accompanied by a partial duplication event. A third patient bore a 39-kb deletion encompassing all of FLNA and the neighboring gene EMD. High-resolution oligo array CGH of the FLNA locus suggests distinct molecular mechanisms for each of these rearrangements, and implicates nearby low copy repeats in their pathogenesis.
conclusionsThese results demonstrate that FLNA is prone to pathogenic rearrangements, and highlight the importance of screening for CNVs in individuals with PNH lacking FLNA point mutations.
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