ArticleJournal of human genetics2016
Homozygous sequence variants in the FKBP10 gene underlie osteogenesis imperfecta in consanguineous families.
Article in Journal of human genetics, 2016. 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.
- Structural dynamics and stability analysis of a novel ARSK variant confirms its role in MPS type X pathogenesis.Glycoconjugate journal · 2026Article
- Splice‑site variant c.3531+1G>T inMolecular medicine reports · 2025Article
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- Sequence variants in different genes underlying Bardet-Biedl syndrome in four consanguineous families.Molecular biology reports · 2023Article
- Clinical features and molecular characterization of Chinese patients with FKBP10 variants.Molecular genetics & genomic medicine · 2023Article
- Identification of homozygous missense variant in SIX5 gene underlying recessive nonsyndromic hearing impairment.PloS one · 2022Article
- Article
- Localized chondro-ossification underlies joint dysfunction and motor deficits in theProceedings of the National Academy of Sciences of the United States of America · 2021Article
- Identification of theMolecular syndromology · 2021Article
- MutatedFrontiers in cell and developmental biology · 2021Article
- EMC10 homozygous variant identified in a family with global developmental delay, mild intellectual disability, and speech delay.Clinical genetics · 2020Article
- Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly.Molecular genetics & genomic medicine · 2019Article
- Biallelic Missense Mutation in theFrontiers in pediatrics · 2019Article
- Article
- Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.Journal of genetics · 2017Article
- Exome sequencing reveals a novel homozygous splice site variant in the WNT1 gene underlying osteogenesis imperfecta type 3.Pediatric research · 2017Article
- Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid.Journal of human genetics · 2017Article
- Novel mutation of FKBP10 in a pediatric patient with osteogenesis imperfecta type XI identified by clinical exome sequencing.The application of clinical genetics · 2017Article
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8 authors.
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Abstract
Osteogenesis imperfecta (OI, MIM 610968) is a genetically and clinically heterogeneous disorder characterized by bone fragility. It is one of the rare forms of skeletal deformity caused by sequence variants in at least 14 different genes, including FKBP10 (MIM 607063) encoding protein FKBP65. Here we present three consanguineous families of Pakistani origin segregating OI in an autosomal-recessive pattern. Genotyping using either single-nucleotide polymorphism markers by Affymetrix GeneChip Human Mapping 250K Nsp array or polymorphic microsatellite markers revealed a homozygous region, containing a candidate gene FKBP10, among affected members on chromosome 17q21.2. Sequencing the FKBP10 gene revealed a homozygous novel nonsense variant (c.1490G>A, p.Trp497*) in the family A and two previously reported variants, including a missense (c.344G>A, p.Arg115Gln), in the family B and duplication of a nucleotide C (c.831dupC, p.Gly278ArgfsX295) in the family C. Our findings further extend the body of evidence that supports the importance of FKBP10 gene in the development of skeletal system.
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