ArticleJournal of medical genetics2006
A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome.
Article in Journal of medical genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 56 citations in OpenAlex.
- Characterization of a Splice Variant inNeurology. Genetics · 2026Article
- A unique case of late-onset CIPO caused by a missense mutation in the long isoform ofFrontiers in genetics · 2025Article
- Periventricular nodular heterotopias is associated with mutation at the FLNA locus-a case history and a literature review.BMC pediatrics · 2023Review
- 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
- Filamin A pre-mRNA editing modulates vascularization and tumor growth.Molecular therapy. Nucleic acids · 2022Article
- A-to-I RNA editing of Filamin A regulates cellular adhesion, migration and mechanical properties.The FEBS journal · 2022Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Article
- Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.BMC medical genetics · 2019Article
- A review of filamin A mutations and associated interstitial lung disease.European journal of pediatrics · 2019Review
- FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.BMC medical genetics · 2018Article
- Thoracic aortic aneurysm in patients with loss of function Filamin A mutations: Clinical characterization, genetics, and recommendations.American journal of medical genetics. Part A · 2018Article
- Update on a previously reported male with a FLNA missense mutation.European journal of human genetics : EJHG · 2017Article
- Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.European journal of human genetics : EJHG · 2016Article
- 47 patients with FLNA associated periventricular nodular heterotopia.Orphanet journal of rare diseases · 2015Article
- Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Journal of molecular medicine (Berlin, Germany) · 2015Article
- MECP2 Duplication Syndrome.Molecular syndromology · 2012Article
- The MECP2 duplication syndrome.American journal of medical genetics. Part A · 2010Review
- Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance.European journal of human genetics : EJHG · 2009Article
- Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.American journal of human genetics · 2007Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations of the filamin A locus (FLNA) on Xq28 have been established in girls with periventricular nodular heterotopia and in patients with otopalatodigital and overlapping phenotypes, the pathogenesis of these phenotypes being thought to be quite distinct. To date only six male cases of periventricular nodular heterotopia (PVNH) have been reported and these almost invariably associated with severe neurological signs. METHODS AND
resultsWe report a new phenotype of male PVNH, with relatively normal development, no epilepsy or other neurological abnormality, severe constipation, and facial dysmorphism and without a discernible skeletal phenotype. This phenotype is associated with a splice site mutation in FLNA c.1923C>T, resulting in the generation of both normal and aberrant mRNA.
conclusionsWe postulate that the patient retains enough FLNA function to avoid the usual lethality associated with loss of function mutations in males and suggest that the severe constipation may be a clue to the molecular aetiology of other X linked conditions associated with severe constipation.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.