ArticleBMC medical genetics2018
FLNA mutations in surviving males presenting with connective tissue findings: two new case reports and review of the literature.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- "Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".Acta neurologica Belgica · 2025Article
- FLNA Mutations in Multisystem Disease: A Diagnostic Key for Unexplained Valvular and Connective Tissue Disorder.JACC. Case reports · 2025Article
- Global, regional, and national burden of congenital musculoskeletal and limb anomalies, 1990-2021: a systematic analysis of the global burden of disease in 2021.Tropical medicine and health · 2025Article
- Clinical features and genetic spectrum of children with primary ciliary dyskinesia in central China: a referral center retrospective analysis.Frontiers in pharmacology · 2025Article
- The Role of CENPK Splice Variant in Abiraterone Response in Metastatic Castration-Resistant Prostate Cancer.Cells · 2024Article
- Sustained generation of neurons destined for neocortex with oxidative metabolic upregulation upon filamin abrogation.iScience · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- Long-term neurodevelopment in children with resected congenital lung abnormalities.European journal of pediatrics · 2023Article
- A novel FLNA variant in a fetus with skeletal dysplasia.Human genome variation · 2022Article
- Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.American journal of medical genetics. Part A · 2022Article
- Phenotypic manifestations inBMJ case reports · 2022Review
- Article
- 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
- Microhomology-Mediated Nonhomologous End Joining Caused Rearrangement ofFrontiers in genetics · 2021Article
- Hemizygous FLNA variant in West syndrome without periventricular nodular heterotopia.Human genome variation · 2020Article
- Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.BMC pediatrics · 2020Review
- Prune belly syndrome in surviving males can be caused by Hemizygous missense mutations in the X-linked Filamin A gene.BMC medical genetics · 2020Article
- Fatal and Non-fatal Health Outcomes of Congenital Musculoskeletal and Limb Anomalies Among Infants in Eastern Sub-Saharan Africa, From 1990 to 2023.SAGE open nursingArticle
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMutations in the X-linked gene filamin A (FLNA), encoding the actin-binding protein FLNA, cause a wide spectrum of connective tissue, skeletal, cardiovascular and/or gastrointestinal manifestations. Males are typically more severely affected than females with common pre- or perinatal death. CASE PRESENTATION: We provide a genotype- and phenotype-oriented literature overview of FLNA hemizygous mutations and report on two live-born male FLNA mutation carriers. Firstly, we identified a de novo, missense mutation (c.238C > G, p.(Leu80Val)) in a five-year old Indian boy who presented with periventricular nodular heterotopia, increased skin laxity, joint hypermobility, mitral valve prolapse with regurgitation and marked facial features (e.g. a flat face, orbital fullness, upslanting palpebral fissures and low-set ears). Secondly, we identified two cis-located FLNA mutations (c.7921C > G, p.(Pro2641Ala); c.7923delC, p.(Tyr2642Thrfs*63)) in a Bosnian patient with Ehlers-Danlos syndrome-like features such as skin translucency and joint hypermobility. This patient also presented with brain anomalies, pectus excavatum, mitral valve prolapse, pulmonary hypertension and dilatation of the pulmonary arteries. He died from heart failure in his second year of life.
conclusionsThese two new cases expand the list of live-born FLNA mutation-positive males with connective tissue disease from eight to ten, contributing to a better knowledge of the genetic and phenotypic spectrum of FLNA-related disease.
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