ArticleJournal of medical genetics2007
A molecular and clinical study of Larsen syndrome caused by mutations in FLNB.
Article in Journal of medical genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 1 of them a synthesis that pooled it.
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Who cites it
55 citing papers in PubMed, 1 synthesis or guideline pooled it, 127 citations in OpenAlex.
- Deciphering the Role of Filamin B Calponin-Homology Domain in Causing the Larsen Syndrome, Boomerang Dysplasia, and Atelosteogenesis Type I Spectrum Disorders via a Computational Approach.Molecules (Basel, Switzerland) · 2020Pooled it
- Patient-informed CRISPR screen identifies FLNB as a congenital heart disease and ciliopathy gene.HGG advances · 2026Article
- Stem cell-associated osteogenic deficiency causes craniofacial deformities with progeroid accumulation of prelamin A.JCI insight · 2026Article
- Severe Osteoporosis in Larsen Syndrome-A Case Report of Bone Morphology and A Novel Filamin B (FLNB) Variant.Calcified tissue international · 2025Article
- Partial Thymectomy during Tracheostomy for Superior Herniation of Normal Mediastinal Thymus in a Patient with Larsen Syndrome: A Case Report.Surgical case reports · 2025Article
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- A Novel Missense Variant in theMolecular syndromology · 2024Article
- FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome.World journal of pediatrics : WJP · 2024Article
- Hand Radiographs in Skeletal Dysplasia: A Pictorial Review.The Indian journal of radiology & imaging · 2024Review
- Craniofacial disorders and dysplasias: Molecular, clinical, and management perspectives.Bone reports · 2024Review
- Larsen Syndrome and Associated Spinal Deformities.Cureus · 2023Review
- Article
- In Silico Localization of Perilymph Proteins Enriched in Meńier̀e Disease Using Mammalian Cochlear Single-cell Transcriptomics.Otology & neurotology open · 2023Article
- A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis.Journal of pediatric genetics · 2022Article
- Management Dilemma of a Neuropathic Knee in a Known Case of Larsen Syndrome: A Case Report.Journal of orthopaedic case reports · 2022Article
- The variants at FLNA and FLNB contribute to the susceptibility of hypertension and stroke with differentially expressed mRNA.The pharmacogenomics journal · 2021Article
- An orthodontic perspective on Larsen syndrome.BMC oral health · 2021Article
- Whole Exome Sequencing Aids the Diagnosis of Fetal Skeletal Dysplasia.Frontiers in genetics · 2021Article
- Cellular and developmental basis of orofacial clefts.Birth defects research · 2020Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
Corrections and comments
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Authors and funding
26 authors at 17 institutions in 11 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundLarsen syndrome is an autosomal dominant osteochondrodysplasia characterised by large-joint dislocations and craniofacial anomalies. Recently, Larsen syndrome was shown to be caused by missense mutations or small inframe deletions in FLNB, encoding the cytoskeletal protein filamin B. To further delineate the molecular causes of Larsen syndrome, 20 probands with Larsen syndrome together with their affected relatives were evaluated for mutations in FLNB and their phenotypes studied.
methodsProbands were screened for mutations in FLNB using a combination of denaturing high-performance liquid chromatography, direct sequencing and restriction endonuclease digestion. Clinical and radiographical features of the patients were evaluated. RESULTS AND DISCUSSION: The clinical signs most frequently associated with a FLNB mutation are the presence of supernumerary carpal and tarsal bones and short, broad, spatulate distal phalanges, particularly of the thumb. All individuals with Larsen syndrome-associated FLNB mutations are heterozygous for either missense or small inframe deletions. Three mutations are recurrent, with one mutation, 5071G-->A, observed in 6 of 20 subjects. The distribution of mutations within the FLNB gene is non-random, with clusters of mutations leading to substitutions in the actin-binding domain and filamin repeats 13-17 being the most common cause of Larsen syndrome. These findings collectively define autosomal dominant Larsen syndrome and demonstrate clustering of causative mutations in FLNB.
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