ArticleJournal of medical genetics2006
Mutations responsible for Larsen syndrome cluster in the FLNB protein.
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, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 49 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
- Application of family whole-exome sequencing for prenatal diagnosis-an analysis of 357 cases.Frontiers in medicine · 2025Article
- Paediatric syndromic scoliosis: proceedings of the half-day course at the 57th annual meeting of the Scoliosis Research Society.Spine deformity · 2024Review
- Defective Biomechanics and Pharmacological Rescue of Human Cardiomyocytes with Filamin C Truncations.International journal of molecular sciences · 2024Article
- A Further Case of Larsen's Syndrome: Clinical and Genotypic Challenges in Diagnosis.Journal of pediatric genetics · 2022Article
- A case study of atypical Larsen syndrome with absent hallmark joint dislocations.Molecular genetics & genomic medicine · 2019Article
- Quantification of transmission risk in a male patient with a FLNB mosaic mutation causing Larsen syndrome: Implications for genetic counseling in postzygotic mosaicism cases.Human mutation · 2017Article
- Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2.Journal of human genetics · 2017Article
- Article
- Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus.Human genetics · 2016Article
- Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.Journal of human genetics · 2016Article
- Phenotype and genotype in patients with Larsen syndrome: clinical homogeneity and allelic heterogeneity in seven patients.BMC medical genetics · 2016Article
- One Stage Bilateral Total Hip Arthroplasty in Siblings with Larsen Syndrome.The open orthopaedics journal · 2016Article
- XYLT1 mutations in Desbuquois dysplasia type 2.American journal of human genetics · 2014Article
- The management of knee dislocation in a child with Larsen syndrome.Clinics (Sao Paulo, Brazil) · 2011Article
- Specific entities affecting the craniocervical region: syndromes affecting the craniocervical junction.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2008Article
- Case report: Congenital knee dislocation in a patient with larsen syndrome and a novel filamin B mutation.Clinical orthopaedics and related research · 2008Article
- Filamin B represses chondrocyte hypertrophy in a Runx2/Smad3-dependent manner.The Journal of cell biology · 2007Article
- Comprehensive multi-stage linkage analyses identify a locus for adult height on chromosome 3p in a healthy Caucasian population.Human genetics · 2007Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundA gene for Larsen syndrome was recently described, and mutations were reported in five cases.
objectiveTo test whether mutations in this gene, FLNB, could explain the disease in our independent collection of sporadic and dominant Larsen syndrome cases; and to test whether mutations occurred in a non-random pattern.
resultsMissense mutations were found in each of five cases. Four of the five were new; one was reported in a sporadic case in the original Larsen syndrome study of five cases. All mutations from the two studies were compiled. Clustered mutations were observed within three filamin B protein domains: the calponin homology 2 domain, repeat 14, and repeat 15. This suggested that as few as five (of the total of 46) coding exons of FLNB could be screened to detect Larsen syndrome mutations. Four of these exons were screened in a sixth (sporadic) case and a previously reported G1691S substitution mutation detected.
conclusionsMutations in FLNB may be responsible for all cases of Larsen syndrome. They appear to occur in specific functional domains of the filamin B protein. This should simplify diagnostic screening of the FLNB gene. Analyses in larger patient series are warranted to quantify this. The study confirmed the extreme variability in clinical presentation and the presence of unaffected carriers. A molecular screen would be valuable for diagnosis and genetic counselling.
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