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Title: New insights on the clinical variability of FKBP10 mutations
Authors: Essawi, Osama H. 
Tapaneeyaphan, Piyanoot 
Symoens, Sofie 
Gistelinck C, Charlotte 
Malfai, Fransiska 
Eyre, David R. 
Essawi, Tamer 
Callewaert, Bert 
Coucke, Paul J. 
Keywords: FKBP10 gene;FKBP65 protein;Osteogenesis imperfecta (OI);Bruck syndrome (BS);Kuskokwim syndrome (KS);Arthrogryposes
Issue Date: 2020
Publisher: European Journal of Medical Genetics
Abstract: To date 45 autosomal recessive disease-causing variants are reported in the FKBP10 gene. Those variant were found to be associated with Osteogenesis Imperfecta (OI) for which the hallmark phenotype is bone fractures or Bruck Syndrome (BS) where bone fractures are accompanied with contractures. In addition, a specific homozygous FKBP10 mutation (p.Tyr293del) has been described in Yup'ik Inuit population to cause Kuskokwim syndrome (KS) in which contractures without fractures are observed. Here we present an extended Palestinian family with 10 affected individuals harboring a novel homozygous splice site mutation, c.391+4A > T in intron 2 of the FKBP10 gene, in which the three above mentioned syndromes segregate as a result of skipping of exon 2 and absence of the FKBP65 protein. At the biochemical level, Hydroxylysyl pyridinoline (HP)/lysyl pyridinoline (LP) values were inversely correlated with OI phenotypes, a trend we could confirm in our patients. Our findings illustrate that single familial FKBP10 mutations can result in a phenotypic spectrum, ranging from fractures without contractures, to fractures and contractures and even to only contractures. This broad intrafamilial clinical variability within one single family is a new finding in the field of bone fragility.
DOI: 10.1016/j.ejmg.2020.103980
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