ArticleGenetics in medicine : official journal of the American College of Medical Genetics2016
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Clinical and genetic profiles of postnatal patients with skeletal dysplasia in Guangxi during 8 years: a single-center experience.Orphanet journal of rare diseases · 2026Article
- X-linked spondyloepiphyseal dysplasia tarda misdiagnosed as growth hormone deficiency: identification of a novel intronic TRAPPC2 variant by whole-genome sequencing.BMC pediatrics · 2026Article
- Genotype and Phenotype of 198 Korean Patients With Nonlethal Osteogenesis Imperfecta: A Retrospective Cohort Study.Human mutation · 2026Article
- Genetic heterogeneity in pediatric short stature: insights from whole exome sequencing and snp- array analyses in a Turkish cohort.European journal of pediatrics · 2025Article
- Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia.European journal of human genetics : EJHG · 2025Article
- Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.Molecular genetics & genomic medicine · 2025Article
- Unraveling the complexity of skeletal dysplasias in the national health system.Frontiers in endocrinology · 2025Article
- Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.American journal of human genetics · 2024Article
- Molecular diagnosis and novel genes and phenotypes in a pediatric thoracic insufficiency cohort.Scientific reports · 2023Article
- Familial Aggregation of a Novel Missense Variant ofChildren (Basel, Switzerland) · 2022Article
- Article
- Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era.BMC medical genomics · 2021Article
- Estimation of the carrier frequencies and proportions of potential patients by detecting causative gene variants associated with autosomal recessive bone dysplasia using a whole-genome reference panel of Japanese individuals.Human genome variation · 2021Article
- Genetics Evaluation of Targeted Exome Sequencing in 223 Chinese Probands With Genetic Skeletal Dysplasias.Frontiers in cell and developmental biology · 2021Article
- Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience.Frontiers in genetics · 2021Article
- Identification of a novel pathogenic variant in the MYH3 gene in a five-generation family with CPSFS1A (Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1A).Molecular genetics & genomic medicine · 2020Article
- A Case of Familial Spondyloenchondrodysplasia with Immune Dysregulation Masquerading as Moyamoya Syndrome.Journal of clinical neurology (Seoul, Korea) · 2019Article
- Novel loss-of-function variants of TRAPPC2 manifesting X-linked spondyloepiphyseal dysplasia tarda: report of two cases.BMC medical genetics · 2019Article
- Expanding the phenome and variome of skeletal dysplasia.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.Genome research · 2018Article
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Authors and funding
19 authors.
Funding
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Abstract
purposeThe purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia.
methodsA total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate variants were selected using a bioinformatics analysis. All candidate variants were confirmed by Sanger sequencing, correlation with the phenotype, and a cosegregation study in the family.
resultsTES detected "confirmed" or "highly likely" pathogenic sequence variants in 74% (71 of 96) of cases in the assured clinical diagnosis category and 20.3% (13 of 64 cases) of cases in the uncertain clinical diagnosis category. TES successfully detected pathogenic variants in all 25 cases of previously known genotypes. The data also suggested a copy-number variation that led to a molecular diagnosis.
conclusionThis study demonstrates the feasibility of TES for the molecular diagnosis of skeletal dysplasia. However, further confirmation is needed for a final molecular diagnosis, including Sanger sequencing of candidate variants with suspected, poorly captured exons.Genet Med 18 6, 563-569.
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