title: Further delineation of FKBP14-related Ehlers-Danlos syndrome: A patient with early vascular complications and non-progressive kyphoscoliosis, and literature review.
abstract: FKBP14-related Ehlers-Danlos syndrome (EDS) is an extremely rare recessive connective tissue disorder described for the first time in 2012 by Baumann and coworkers. The causal gene, FKBP14, encodes a member of the F506-binding family of peptidyl-prolyl cis-trans isomerases. The paucity of patients described so far makes this disorder poorly defined at clinical level. Here, we report an additional pediatric patient, who is compound heterozygous for a recurrent and a novel FKBP14 mutation, and compare his phenotype with those available in literature. This evaluation confirms that kyphoscoliosis (either progressive or non-progressive), myopathy, joint hypermobility, and congenital hearing loss (sensorineural, conductive, or mixed) are the typical features of the syndrome. Since the patient showed a severe cardiovascular event in childhood and atlantoaxial instability, this report expands the phenotype of the disorder and the allelic repertoire of FKBP14. © 2016 Wiley Periodicals, Inc.
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Dordoni
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Ciaccio
authors.affiliation: Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Venturini
authors.affiliation: Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy.
authors.forename: Piergiacomo
authors.initials: P
authors.lastname: Calzavara-Pinton
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Ritelli
authors.affiliation: Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, School of Medicine, Italy.
authors.forename: Marina
authors.initials: M
authors.lastname: Colombi
mesh_terms: D002648:Child; D004252:DNA Mutational Analysis; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics*; D005091:Exons; D019066:Facies; D056726:Genetic Association Studies; D006579:Heterozygote; D006801:Humans; D007738:Kyphosis / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009154:Mutation; D019696:Peptidylprolyl Isomerase / Q000235:genetics*; D010641:Phenotype; D011859:Radiography; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics
chemical_list: C572897:FKBP14 protein, human; D019696:Peptidylprolyl Isomerase
keywords: Ehlers-Danlos syndrome; FKBP14; atlantoaxial instability; joint hypermobility; kyphoscoliosis; vascular complications