ArticleAmerican journal of human genetics2010
Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 57 citations in OpenAlex.
- Auricular fistula: a review of its clinical manifestations, genetics, and treatments.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Terminal osseous dysplasia with pigmentary defects and cardiomyopathy caused by a novel FLNA variant.American journal of medical genetics. Part A · 2021Article
- Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.Frontiers in endocrinology · 2020Review
- Septo-optic dysplasia caused by a novel FLNA splice site mutation: a case report.BMC medical genetics · 2019Article
- 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
- Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum.Journal of human genetics · 2016Article
- Association of mutations in FLNA with craniosynostosis.European journal of human genetics : EJHG · 2015Article
- Diverse phenotypic consequences of mutations affecting the C-terminus of FLNA.Journal of molecular medicine (Berlin, Germany) · 2015Article
- Terminal osseous dysplasia with pigmentary defects (TODPD) due to a recurrent filamin A (FLNA) mutation.Molecular genetics & genomic medicine · 2014Article
- Exome sequencing greatly expedites the progressive research of Mendelian diseases.Frontiers of medicine · 2014Review
- Next-generation sequencing: a frameshift in skeletal dysplasia gene discovery.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2014Review
- Diagnosis and treatment of digitocutaneous dysplasia, a rare infantile digital fibromatosis: a case report.Hand (New York, N.Y.) · 2013Article
- Filamin A regulates neuronal migration through brefeldin A-inhibited guanine exchange factor 2-dependent Arf1 activation.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2013Article
- Genetics and epigenetics of the skin meet deep sequence.The Journal of investigative dermatology · 2012Review
- Periventricular Heterotopia: Shuttling of Proteins through Vesicles and Actin in Cortical Development and Disease.Scientifica · 2012Review
- Exome sequencing identifies ZNF644 mutations in high myopia.PLoS genetics · 2011Article
- Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders.Bioinformatics (Oxford, England) · 2011Article
- Allelic diversity in human developmental neurogenetics: insights into biology and disease.Neuron · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
15 authors at 6 institutions in 5 countries.
Funding
Abstract
Terminal osseous dysplasia (TOD) is an X-linked dominant male-lethal disease characterized by skeletal dysplasia of the limbs, pigmentary defects of the skin, and recurrent digital fibroma with onset in female infancy. After performing X-exome capture and sequencing, we identified a mutation at the last nucleotide of exon 31 of the FLNA gene as the most likely cause of the disease. The variant c.5217G>A was found in six unrelated cases (three families and three sporadic cases) and was not found in 400 control X chromosomes, pilot data from the 1000 Genomes Project, or the FLNA gene variant database. In the families, the variant segregated with the disease, and it was transmitted four times from a mildly affected mother to a more seriously affected daughter. We show that, because of nonrandom X chromosome inactivation, the mutant allele was not expressed in patient fibroblasts. RNA expression of the mutant allele was detected only in cultured fibroma cells obtained from 15-year-old surgically removed material. The variant activates a cryptic splice site, removing the last 48 nucleotides from exon 31. At the protein level, this results in a loss of 16 amino acids (p.Val1724_Thr1739del), predicted to remove a sequence at the surface of filamin repeat 15. Our data show that TOD is caused by this single recurrent mutation in the FLNA gene.
Indexed as
Identifiers
What OpenQuestion holds
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.