ArticleAmerican journal of human genetics2007
Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 49 papers, 1 of them a synthesis that pooled it.
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Who cites it
49 citing papers in PubMed, 1 synthesis or guideline pooled it, 119 citations in OpenAlex.
- Pediatric Intestinal Pseudo-Obstruction: Progress and Challenges.Frontiers in pediatrics · 2022Pooled it
- Congenital short bowel syndrome: Clinical aspects by systematic review.JPGN reports · 2026Article
- Pan-tissue transcriptomic profiling of dairy cattle.Journal of animal science and biotechnology · 2026Article
- Filamin A in focus: unravelling the multifaceted roles of filamin A in neurodevelopment and neurological disorders.Brain : a journal of neurology · 2025Review
- Filamin A editing in myeloid cells reduces intestinal inflammation and protects from colitis.The Journal of experimental medicine · 2025Article
- A unique case of late-onset CIPO caused by a missense mutation in the long isoform ofFrontiers in genetics · 2025Article
- Cutting-edge regenerative therapy for Hirschsprung disease and its allied disorders.Surgery today · 2024Review
- Article
- The long Filamin-A isoform is required for intestinal development and motility: implications for chronic intestinal pseudo-obstruction.Human molecular genetics · 2023Article
- Filamin A pre-mRNA editing modulates vascularization and tumor growth.Molecular therapy. Nucleic acids · 2022Article
- Enteric Neuromyopathies: Highlights on Genetic Mechanisms Underlying Chronic Intestinal Pseudo-Obstruction.Biomolecules · 2022Review
- A-to-I RNA editing of Filamin A regulates cellular adhesion, migration and mechanical properties.The FEBS journal · 2022Article
- Comment to the Description of a Novel Cohesinopathy in Chronic Intestinal Pseudo Obstruction.Journal of neurogastroenterology and motility · 2022Article
- A brief history of MECP2 duplication syndrome: 20-years of clinical understanding.Orphanet journal of rare diseases · 2022Review
- Article
- Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton.American journal of physiology. Gastrointestinal and liver physiology · 2021Review
- The enteric nervous system in gastrointestinal disease etiology.Cellular and molecular life sciences : CMLS · 2021Review
- Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.The Journal of clinical investigation · 2021Article
- Latest developments in chronic intestinal pseudo-obstruction.World journal of clinical cases · 2020Review
- Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.BMC pediatrics · 2020Review
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
We have previously reported that an X-linked recessive form of chronic idiopathic intestinal pseudo-obstruction (CIIPX) maps to Xq28. To select candidate genes for the disease, we analyzed the expression in murine fetal brain and intestine of 56 genes from the critical region. We selected and sequenced seven genes and found that one affected male from a large CIIPX-affected kindred bears a 2-bp deletion in exon 2 of the FLNA gene that is present at the heterozygous state in the carrier females of the family. The frameshift mutation is located between two close methionines at the filamin N terminus and is predicted to produce a protein truncated shortly after the first predicted methionine. Loss-of-function FLNA mutations have been associated with X-linked dominant nodular ventricular heterotopia (PVNH), a central nervous system (CNS) migration defect that presents with seizures in females and lethality in males. Notably, the affected male bearing the FLNA deletion had signs of CNS involvement and potentially has PVNH. To understand how the severe frameshift mutation we found can explain the CIIPX phenotype and its X-linked recessive inheritance, we transiently expressed both the wild- type and mutant filamin in cell culture and found that filamin translation can start from either of the two initial methionines in these conditions. Therefore, translation of a normal shorter filamin can occur in vitro from the second methionine downstream of the 2-bp insertion we found. We confirmed this, demonstrating that the filamin protein is present in the patient's lymphoblastoid cell line that shows abnormal cytoskeletal actin organization compared with normal lymphoblasts. We conclude that the filamin N terminal region between the initial two methionines is crucial for proper enteric neuron development.
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Registered trials
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